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Entry version 151 (16 Oct 2019)
Sequence version 2 (20 Jun 2001)
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Protein

Olfactory receptor 2S2

Gene

OR2S2

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

Annotation score:4 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>
-Experimental evidence at transcript leveli <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

GO - Biological processi

<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 2S2
Alternative name(s):
Olfactory receptor OR9-3
<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:OR2S2
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8276 OR2S2

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NQN1

<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 – 26ExtracellularSequence analysisAdd BLAST26
<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>Transmembranei27 – 50Helical; Name=1Sequence analysisAdd BLAST24
Topological domaini51 – 58CytoplasmicSequence analysis8
Transmembranei59 – 80Helical; Name=2Sequence analysisAdd BLAST22
Topological domaini81 – 101ExtracellularSequence analysisAdd BLAST21
Transmembranei102 – 121Helical; Name=3Sequence analysisAdd BLAST20
Topological domaini122 – 140CytoplasmicSequence analysisAdd BLAST19
Transmembranei141 – 159Helical; Name=4Sequence analysisAdd BLAST19
Topological domaini160 – 196ExtracellularSequence analysisAdd BLAST37
Transmembranei197 – 220Helical; Name=5Sequence analysisAdd BLAST24
Topological domaini221 – 237CytoplasmicSequence analysisAdd BLAST17
Transmembranei238 – 260Helical; Name=6Sequence analysisAdd BLAST23
Topological domaini261 – 279ExtracellularSequence analysisAdd BLAST19
Transmembranei280 – 299Helical; Name=7Sequence analysisAdd BLAST20
Topological domaini300 – 319CytoplasmicSequence analysisAdd BLAST20

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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA32200

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NQN1

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OR2S2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
14423818

<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_00001504951 – 319Olfactory receptor 2S2Add BLAST319

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 bondi98 ↔ 190PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q9NQN1

PeptideAtlas

More...
PeptideAtlasi
Q9NQN1

PRoteomics IDEntifications database

More...
PRIDEi
Q9NQN1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
82165

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NQN1

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

More...
PhosphoSitePlusi
Q9NQN1

<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
ENSG00000122718 Expressed in 3 organ(s), highest expression level in muscle of leg

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NQN1 HS

<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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121169, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NQN1, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000485066

<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
ENOG410IENR Eukaryota
ENOG4111CQX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182777

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000041365

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NQN1

KEGG Orthology (KO)

More...
KOi
K04257

Identification of Orthologs from Complete Genome Data

More...
OMAi
SMEVTNV

Database of Orthologous Groups

More...
OrthoDBi
1029720at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NQN1

TreeFam database of animal gene trees

More...
TreeFami
TF352686

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>. The information is filed in different subsections. The current subsections and their content are listed below:<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.

Q9NQN1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEKANETSPV MGFVLLRLSA HPELEKTFFV LILLMYLVIL LGNGVLILVT
60 70 80 90 100
ILDSRLHTPM YFFLGNLSFL DICFTTSSVP LVLDSFLTPQ ETISFSACAV
110 120 130 140 150
QMALSFAMAG TECLLLSMMA FDRYVAICNP LRYSVIMSKA AYMPMAASSW
160 170 180 190 200
AIGGAASVVH TSLAIQLPFC GDNVINHFTC EILAVLKLAC ADISINVISM
210 220 230 240 250
EVTNVIFLGV PVLFISFSYV FIITTILRIP SAEGRKKVFS TCSAHLTVVI
260 270 280 290 300
VFYGTLFFMY GKPKSKDSMG ADKEDLSDKL IPLFYGVVTP MLNPIIYSLR
310
NKDVKAAVRR LLRPKGFTQ
Length:319
Mass (Da):35,172
Last modified:June 20, 2001 - v2
<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:i602602FCA96A179F
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_05999417R → G. Corresponds to variant dbSNP:rs2233558Ensembl.1
Natural variantiVAR_05999530V → M. Corresponds to variant dbSNP:rs2233559Ensembl.1
Natural variantiVAR_05999689P → S. Corresponds to variant dbSNP:rs2233560Ensembl.1
Natural variantiVAR_059997123R → H. Corresponds to variant dbSNP:rs2233563Ensembl.1
Natural variantiVAR_059998143M → V. Corresponds to variant dbSNP:rs2233564Ensembl.1
Natural variantiVAR_059999161T → A. Corresponds to variant dbSNP:rs2233565Ensembl.1
Natural variantiVAR_060000287V → A. Corresponds to variant dbSNP:rs2233570Ensembl.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
AL135841 Genomic DNA No translation available.
BC104869 mRNA Translation: AAI04870.1
BC113651 mRNA Translation: AAI13652.1
AF399601 Genomic DNA Translation: AAK95086.1
BK004443 Genomic DNA Translation: DAA04841.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6596.2

NCBI Reference Sequences

More...
RefSeqi
NP_063950.2, NM_019897.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000341959; ENSP00000344040; ENSG00000278889

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
56656

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:56656

UCSC genome browser

More...
UCSCi
uc011lpi.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
AL135841 Genomic DNA No translation available.
BC104869 mRNA Translation: AAI04870.1
BC113651 mRNA Translation: AAI13652.1
AF399601 Genomic DNA Translation: AAK95086.1
BK004443 Genomic DNA Translation: DAA04841.1
CCDSiCCDS6596.2
RefSeqiNP_063950.2, NM_019897.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi121169, 2 interactors
IntActiQ9NQN1, 1 interactor
STRINGi9606.ENSP00000485066

Protein family/group databases

Information system for G protein-coupled receptors (GPCRs)

More...
GPCRDBi
Search...

PTM databases

iPTMnetiQ9NQN1
PhosphoSitePlusiQ9NQN1

Polymorphism and mutation databases

BioMutaiOR2S2
DMDMi14423818

Proteomic databases

PaxDbiQ9NQN1
PeptideAtlasiQ9NQN1
PRIDEiQ9NQN1
ProteomicsDBi82165

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
56656

Genome annotation databases

EnsembliENST00000341959; ENSP00000344040; ENSG00000278889
GeneIDi56656
KEGGihsa:56656
UCSCiuc011lpi.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56656

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OR2S2
HGNCiHGNC:8276 OR2S2
neXtProtiNX_Q9NQN1
PharmGKBiPA32200

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IENR Eukaryota
ENOG4111CQX LUCA
GeneTreeiENSGT00950000182777
HOGENOMiHOG000041365
InParanoidiQ9NQN1
KOiK04257
OMAiSMEVTNV
OrthoDBi1029720at2759
PhylomeDBiQ9NQN1
TreeFamiTF352686

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
OR2S2

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

More...
GenomeRNAii
56656
PharosiQ9NQN1

Protein Ontology

More...
PROi
PR:Q9NQN1

Gene expression databases

BgeeiENSG00000122718 Expressed in 3 organ(s), highest expression level in muscle of leg
GenevisibleiQ9NQN1 HS

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...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiOR2S1_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: Q9NQN1
Secondary accession number(s): Q2M3L0, Q6IF19, Q96R42
<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: June 20, 2001
Last sequence update: June 20, 2001
Last modified: October 16, 2019
This is version 151 of the entry and version 2 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 9
    Human chromosome 9: 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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