RGD:15102580 Rat Genome Database

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Variant: RGD:15102580 -  Homo sapiens

RGD ID: 15102580
RS ID: rs74153221
ClinVar ID: CV718861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR2AK2  OR2L13  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 248,129,501
GRCh38 1 247,966,199
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_175911.5:c.-144+28815G>A
NM_001304535.3:c.-19+28815G>A
NC_000001.11:g.247966199G>A
NC_000001.10:g.248129501G>A
More... 		08/01/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:OR2L13
Accession:NM_175911
Location:5UTRS;INTRON

Gene Symbol:OR2L13
Accession:NM_001304535
Location:5UTRS;INTRON

Gene Symbol:OR2AK2
Accession:NM_001004491
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTGNQSFGTDFLLVGLFQYGWINSLLFVVIATLFTVALTGNIMLIHLIRLNTRLHTPMYFLLSQLSIVDLMYISTTVPK
MAVSFLSQSKTIRFLGCEIQTYVFLALGGTEALLLGFMSYDRYVAICHPLHYPMLMSKKICCLMVACAWASGSINAFIHT
LYVFQLPFCRSRLINHFFCEVPALLSLVCQDTSQYEYTVLLSGLIILLLPFLAILASYARVLIVVFQMSSGKGQAKAVST
CSSHLIVASLFYATTLFTYTRPHSLRSPSRDKAVTVFYTIVTPLLNPFIYSLRNKEVTGAVRRLLGYWICCRKYDFRSLY
*

Gene Symbol:OR2L13
Accession:NM_001395936
Location:INTRON

Gene Symbol:OR2L13
Accession:XM_011544169
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000892507 CLINVAR
dbSNP (RS) rs74153221 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene OR2AK2 CLINVAR
  OR2L13 CLINVAR