RGD:401757017 Rat Genome Database

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Variant: RGD:401757017 -  Homo sapiens

RGD ID: 401757017
ClinVar ID: CV2692762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107987105  OR13C9  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 107,380,113
GRCh38 9 104,617,832
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001001956.1:c.373G>T
NC_000009.12:g.104617832C>A
NC_000009.11:g.107380113C>A
NP_001001956.1:p.Ala125Ser
 06/02/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OR13C9
Accession:NM_001001956
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEWENQTILVEFFLKGHSVHPRLELLFFVLIFIMYVVILLGNGTLILISILDPHLHTPMYFFLGNLSFLDICYTTTSIPS
TLVSFLSERKTISFSGCAVQMFLGLAMGTTECVLLGMMAFDRYVSICNPLRYPIIMSKNAYVPMAVGSWFAGIVNSAVQT
TFVVQLPFCRKNVINHFSCEILAVMKLACADISGNEFLMLVATILFTLMPLLLIVISYSLIISSILKIHSSEGRSKAFST
CSAHLTVVIIFYGTILFMYMKPKSKETLNSDDLDATDKIISMFYGVMTPMMNPLIYSLRNKDVKEAVKHLPNRRFFSK*

Gene Symbol:LOC107987105
Accession:XR_007061705
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004306309 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OR13C9 CLINVAR