RGD:15164107 Rat Genome Database

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Variant: RGD:15164107 -  Homo sapiens

RGD ID: 15164107
RS ID: rs10176036
ClinVar ID: CV697462
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR6B2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 240,969,483
GRCh38 2 240,030,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005853.1:c.364C>T
NG_031855.2:g.337C>T
NC_000002.12:g.240030066G>A
NC_000002.11:g.240969483G>A
More...
07/27/2017 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:OR6B2
Accession:NM_001005853
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGENVTKVSTFILVGLPTAPGLQYLLFLLFLLTYLFVLVENLAIILIVWSSTSLHRPMYYFLSSMSFLEIWYVSDITPK
MLEGFLLQQKRISFVGCMTQLYFFSSLVCTECVLLASMAYDCYVAICHPLRYHVLVTPGLCLQLVGFSFVSGFTISMIKV
CFISSVTFCGSNVLNHFFCDISPILKLACTDFSTAELVDFILAFIILVFPLLATILSYWHITLAVLRIPSATGCWRAFST
CASHLTVVTVFYTALLFMYVRPQAIDSQSSNKLISAVYTVVTPIINPLIYCLRNKEFKDALKKALGLGQTSH*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000948257 CLINVAR
dbSNP (RS) rs10176036 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene OR6B2 CLINVAR