RGD:11614726 Rat Genome Database

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Variant: RGD:11614726 -  Homo sapiens

RGD ID: 11614726
RS ID: rs372662765
ClinVar ID: CV328748
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC17A8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 100,795,640
GRCh38 12 100,401,862
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021175.1:g.49784T>C
NC_000012.12:g.100401862T>C
NC_000012.11:g.100795640T>C
NP_647480.1:p.Tyr254=
More... 		06/14/2016 synonymous variant uncertain significance Deafness, autosomal dominant 25
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC17A8
Accession:NM_139319
Location:EXON

Gene Symbol:SLC17A8
Accession:NM_001145288
Location:EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000279136 CLINVAR
dbSNP (RS) rs372662765 CLINVAR
MedGen C1854158 CLINVAR
NCBI Gene SLC17A8 CLINVAR
OMIM 605583 CLINVAR
  607557 CLINVAR