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UniProtKB - Q8NGY6 (OR6N2_HUMAN)

Entry version 128 (13 Feb 2019)
Sequence version 1 (01 Oct 2002)
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Protein

Olfactory receptor 6N2

Gene

OR6N2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Protein inferred from homologyi <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Odorant receptor.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • G protein-coupled receptor signaling pathway Source: GO_Central
View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer
Biological processOlfaction, Sensory transduction

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-381753 Olfactory Signaling Pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Olfactory receptor 6N2
Alternative name(s):
Olfactory receptor OR1-23
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OR6N2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000188340.1

Human Gene Nomenclature Database

More...HGNCi		HGNC:15035 OR6N2

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NGY6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 25ExtracellularSequence analysisAdd BLAST25
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei26 – 46Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini47 – 54CytoplasmicSequence analysis8
Transmembranei55 – 75Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini76 – 99ExtracellularSequence analysisAdd BLAST24
Transmembranei100 – 120Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini121 – 139CytoplasmicSequence analysisAdd BLAST19
Transmembranei140 – 160Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini161 – 197ExtracellularSequence analysisAdd BLAST37
Transmembranei198 – 217Helical; Name=5Sequence analysisAdd BLAST20
Topological domaini218 – 237CytoplasmicSequence analysisAdd BLAST20
Transmembranei238 – 258Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini259 – 271ExtracellularSequence analysisAdd BLAST13
Transmembranei272 – 292Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini293 – 317CytoplasmicSequence analysisAdd BLAST25

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...OpenTargetsi		ENSG00000188340

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA32600

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		OR6N2

Domain mapping of disease mutations (DMDM)

More...DMDMi		38372789

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001506341 – 317Olfactory receptor 6N2Add BLAST317

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi5N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi97 ↔ 189PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8NGY6

PeptideAtlas

More...PeptideAtlasi		Q8NGY6

PRoteomics IDEntifications database

More...PRIDEi		Q8NGY6

ProteomicsDB human proteome resource

More...ProteomicsDBi		73626

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NGY6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8NGY6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000188340 Expressed in 1 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NGY6 baseline and differential

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA056637

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000344101

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q8NGY6

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IHMU Eukaryota
ENOG410YFWH LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158895

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000041362

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG017625

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NGY6

KEGG Orthology (KO)

More...KOi		K04257

Identification of Orthologs from Complete Genome Data

More...OMAi		ICGNMLI

Database of Orthologous Groups

More...OrthoDBi		996670at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NGY6

TreeFam database of animal gene trees

More...TreeFami		TF337673

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR000725 Olfact_rcpt

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13853 7tm_4, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00237 GPCRRHODOPSN
PR00245 OLFACTORYR

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q8NGY6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDQYNHSSLA EFVFLGFASV GYVRGWLFVL LLLAYLFTIC GNMLIFSVIR 
        60         70         80         90        100
LDAALHTPMY HFVSVLSFLE LWYTATTIPK MLSNILSEKK TISFAGCLLQ 
       110        120        130        140        150
TYFFHSLGAS ECYLLTAMAY DRYLAICRPL HYPIIMTTTL CAKMAAACWT 
       160        170        180        190        200
CGFLCPISEV ILASQLPFCA YNEIQHIFCD FPPLLSLACK DTSANILVDF 
       210        220        230        240        250
AINAFIILIT FFFIMISYAR IIGAVLKIKT ASGRKKAFST CASHLAVVLI 
       260        270        280        290        300
FFGSIIFMYV RLKKSYSLTL DRTLAIVYSV LTPMVNPIIY SLRNKEIIKA 
       310 
IKRTIFQKGD KASLAHL
Length:317
Mass (Da):35,692
Last modified:October 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD6CAD3D00B0C981D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_053224204A → V. Corresponds to variant dbSNP:rs12027473Ensembl.1
Natural variantiVAR_062054250I → V. Corresponds to variant dbSNP:rs41273541Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB065630 Genomic DNA Translation: BAC05856.1
AL513205 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW52809.1
BK004200 Genomic DNA Translation: DAA04598.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS30906.1

NCBI Reference Sequences

More...RefSeqi		NP_001005278.1, NM_001005278.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.554487

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000339258; ENSP00000344101; ENSG00000188340
ENST00000641131; ENSP00000493148; ENSG00000188340

Database of genes from NCBI RefSeq genomes

More...GeneIDi		81442

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:81442

UCSC genome browser

More...UCSCi		uc010pir.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Human Olfactory Receptor Data Exploratorium (HORDE)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB065630 Genomic DNA Translation: BAC05856.1
AL513205 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW52809.1
BK004200 Genomic DNA Translation: DAA04598.1
CCDSiCCDS30906.1
RefSeqiNP_001005278.1, NM_001005278.1
UniGeneiHs.554487

3D structure databases

ProteinModelPortaliQ8NGY6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000344101

Protein family/group databases

Information system for G protein-coupled receptors (GPCRs)

More...GPCRDBi		Search...

PTM databases

iPTMnetiQ8NGY6
PhosphoSitePlusiQ8NGY6

Polymorphism and mutation databases

BioMutaiOR6N2
DMDMi38372789

Proteomic databases

PaxDbiQ8NGY6
PeptideAtlasiQ8NGY6
PRIDEiQ8NGY6
ProteomicsDBi73626

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339258; ENSP00000344101; ENSG00000188340
ENST00000641131; ENSP00000493148; ENSG00000188340
GeneIDi81442
KEGGihsa:81442
UCSCiuc010pir.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		81442
EuPathDBiHostDB:ENSG00000188340.1

GeneCards: human genes, protein and diseases

More...GeneCardsi		OR6N2
HGNCiHGNC:15035 OR6N2
HPAiHPA056637
neXtProtiNX_Q8NGY6
OpenTargetsiENSG00000188340
PharmGKBiPA32600

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IHMU Eukaryota
ENOG410YFWH LUCA
GeneTreeiENSGT00940000158895
HOGENOMiHOG000041362
HOVERGENiHBG017625
InParanoidiQ8NGY6
KOiK04257
OMAiICGNMLI
OrthoDBi996670at2759
PhylomeDBiQ8NGY6
TreeFamiTF337673

Enzyme and pathway databases

ReactomeiR-HSA-381753 Olfactory Signaling Pathway

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		OR6N2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		81442

Protein Ontology

More...PROi		PR:Q8NGY6

Gene expression databases

BgeeiENSG00000188340 Expressed in 1 organ(s), highest expression level in blood
ExpressionAtlasiQ8NGY6 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR000725 Olfact_rcpt
PfamiView protein in Pfam
PF13853 7tm_4, 1 hit
PRINTSiPR00237 GPCRRHODOPSN
PR00245 OLFACTORYR
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOR6N2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NGY6
Secondary accession number(s): Q6IFR2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: October 1, 2002
Last modified: February 13, 2019
This is version 128 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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