RGD:8570709 Rat Genome Database

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Variant: RGD:8570709 -  Homo sapiens

RGD ID: 8570709
RS ID: rs28757581
ClinVar ID: CV48524
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR2J3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 29,080,004
GRCh38 6 29,112,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033252.1:g.5418A>G
NC_000006.12:g.29112227A>G
NC_000006.11:g.29080004A>G
NM_001005216.2:c.337A>G
More... 		02/15/2013 missense|missense variant pathogenic|affects

Variant Details
Variant Transcripts
Gene Symbol:OR2J3
Accession:NM_001005216
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDDGKVNASSEGYFILVGFSNWPHLEVVIFVVVLIFYLMTLIGNLFIIILSYLDSHLHTPMYFFLSNLSFLDLCYTTSS
IPQLLVNLWGPEKTISYAGCMIQLYFVLALGTAECVLLVVMSYDRYAAVCRPLHYTVLMHPRFCHLLAVASWVSGFTNSA
LHSSFTFWVPLCGHRQVDHFFCEVPALLRLSCVDTHVNELTLMITSSIFVLIPLILILTSYGAIVRAILRMQSTTGLQKV
FGTCGAHLMAVSLFFIPAMCMYLQPPSGNSQDQGKFIALFYTVVTPSLNPLIYTLRNKVVRGAVKRLMGWE*
Variant Samples
Additional References at PubMed
PMID:22714804  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000033138 CLINVAR
dbSNP (RS) rs28757581 CLINVAR
MedGen C3554456 CLINVAR
NCBI Gene OR2J3 CLINVAR
OMIM 615016 CLINVAR
  615082 CLINVAR
OMIM Allele 615016.0001 CLINVAR