RGD:11614816 Rat Genome Database

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Variant: RGD:11614816 -  Homo sapiens

RGD ID: 11614816
RS ID: rs11070718
ClinVar ID: CV338321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 31,293,454
GRCh38 15 31,001,251
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001252020.2:c.*571G>A
NG_016453.2:g.165023G>A
NC_000015.10:g.31001251C>T
NC_000015.9:g.31293454C>T
More... 		01/12/2018 3 prime utr variant benign Night blindness, congenital stationary (complete), 1C, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRPM1
Accession:NM_002420
Location:3UTRS;EXON

Gene Symbol:TRPM1
Accession:NM_001252020
Location:3UTRS;EXON

Gene Symbol:TRPM1
Accession:NM_001252024
Location:3UTRS;EXON

Gene Symbol:TRPM1
Accession:NM_001252030
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000279920 CLINVAR
dbSNP (RS) rs11070718 CLINVAR
MedGen C2750747 CLINVAR
NCBI Gene TRPM1 CLINVAR
OMIM 603576 CLINVAR
  613216 CLINVAR