RGD:10041263 Rat Genome Database

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Variant: RGD:10041263 -  Homo sapiens

RGD ID: 10041263
RS ID: rs786204045
ClinVar ID: CV186166
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  TSPAN31  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,142,303
GRCh38 12 57,748,520
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005981.5:c.*1230A>G
LRG_490:g.8862T>C
NG_007484.2:g.8862T>C
NC_000012.12:g.57748520A>G
More... 		07/27/2016 3 prime utr variant uncertain significance Hereditary cutaneous melanoma; Hereditary melanoma
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSPAN31
Accession:NM_001330168
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:NM_001330169
Location:3UTRS;EXON

Gene Symbol:CDK4
Accession:NM_000075
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:NM_005981
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:XM_024449123
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000167885 CLINVAR
dbSNP (RS) rs786204045 CLINVAR
MedGen C1512419 CLINVAR
NCBI Gene CDK4 CLINVAR
  TSPAN31 CLINVAR
OMIM 123829 CLINVAR
  181035 CLINVAR