RGD:11608068 Rat Genome Database

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Variant: RGD:11608068 -  Homo sapiens

RGD ID: 11608068
RS ID: rs17227989
ClinVar ID: CV322143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 31,293,774
GRCh38 15 31,001,571
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.164703A>G
NC_000015.10:g.31001571T>C
NC_000015.9:g.31293774T>C
NM_001252024.2:c.*251A>G
More... 		01/19/2019 3 prime utr variant benign|likely benign Night blindness, congenital stationary (complete), 1C, autosomal recessive; none provided
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 RCV000350464 CLINVAR
  RCV001660649 CLINVAR
dbSNP (RS) rs17227989 CLINVAR
MedGen C2750747 CLINVAR
  C3661900 CLINVAR
NCBI Gene TRPM1 CLINVAR
OMIM 603576 CLINVAR
  613216 CLINVAR