RGD:11642492 Rat Genome Database

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Variant: RGD:11642492 -  Homo sapiens

RGD ID: 11642492
RS ID: rs181499296
ClinVar ID: CV275073
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105370752  TRPM1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 31,323,360
GRCh38 15 31,031,157
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016453.2:g.135117A>C
NC_000015.10:g.31031157T>G
NC_000015.9:g.31323360T>G
NP_002411.3:p.Met963Leu
More... 		11/21/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TRPM1
Accession:NM_001252030
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_001252024
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_002420
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_001252020
Location:INTRON

Gene Symbol:LOC105370752
Accession:XR_007064555
Location:INTRON;NON-CODING

Gene Symbol:LOC105370752
Accession:XR_932056
Location:INTRON;NON-CODING

Gene Symbol:LOC105370752
Accession:XR_932055
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000376621 CLINVAR
dbSNP (RS) rs181499296 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TRPM1 CLINVAR
OMIM 603576 CLINVAR