RGD:28886468 Rat Genome Database

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Variant: RGD:28886468 -  Homo sapiens

RGD ID: 28886468
RS ID: rs535104911
ClinVar ID: CV864888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DPYD  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 97,543,897
GRCh38 1 97,078,341
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.97543897A>T
LRG_722:g.847719T>A
NG_008807.2:g.847719T>A
LRG_722t1:c.*635T>A
More... 		01/13/2018 3 prime utr variant uncertain significance DPD deficiency; DPYD DEFICIENCY; Hereditary Thymine-Uraciluria; Pyrimidinemia familial
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DPYD
Accession:XM_047448077
Location:3UTRS;EXON

Gene Symbol:DPYD
Accession:NM_000110
Location:3UTRS;EXON

Gene Symbol:DPYD
Accession:XM_047448076
Location:3UTRS;EXON

Gene Symbol:DPYD
Accession:XM_017000507
Location:3UTRS;EXON

Gene Symbol:DPYD
Accession:XM_005270562
Location:3UTRS;EXON

Gene Symbol:DPYD
Accession:XM_006710397
Location:INTRON

Gene Symbol:DPYD
Accession:NM_001160301
Location:INTRON

Gene Symbol:DPYD
Accession:XR_001737014
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001098469 CLINVAR
dbSNP (RS) rs535104911 CLINVAR
MedGen C1959620 CLINVAR
NCBI Gene DPYD CLINVAR
OMIM 274270 CLINVAR
  612779 CLINVAR