OR5A1 I52V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

OR5A1 I52V

(OR5A1 Ile52Val)


You are viewing the latest version of this page, saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr11:59210795: 1.0% (106/10758) in EVS
  • G @ chr11:58967370: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 1.0% (106/10758)

Publications
 

Genomes
 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr11:59210795

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr11:58967371

 

Added in this revision:

GS19648 - var-GS19648-1100-36-ASM
het G @ chr11:58967371

 

Other external references
 

    dbSNP
  • rs17153732
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.974 (probably damaging)
    Web search results (5 hits -- see all)
  • OR5A1 Gene - GeneCards | OR5A1 Protein | OR5A1 Antibody
    EntrezGene summary for OR5A1: Olfactory receptors interact with odorant molecules in the ... OR5A1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1
  • Olfactory receptor 5A1 - Homo sapiens (Human)
    OR5A1. Synonyms: OR5A1P. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... OR5A1. PharmGKB. PA32454. GenAtlas. Search... Phylogenomic databases ...
    www.uniprot.org/uniprot/Q8NGJ0
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17153732. rs17153766*E11Q. rs17153770*F102S. rs17153882*R46S ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • UniProt: Q8NGJ0
    AC Q8NGJ0; B9EH58; Q6IFF2; Q96RB1; DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot. ... GC11P058967; -. DR H-InvDB; HIX0036057; -. DR HGNC; HGNC:8319; OR5A1. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q8NGJ0

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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