RGD:11582482 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:11582482 -  Homo sapiens

RGD ID: 11582482
RS ID: rs55992536
ClinVar ID: CV283443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DPYD  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 97,543,486
GRCh38 1 97,077,930
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_000110.4:c.*1046C>A
NM_000110.3:c.*1046C>A
LRG_722t1:c.*1046C>A
LRG_722:g.848130C>A
More... 		01/13/2018 3 prime utr variant uncertain significance all ages 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_047448076
Location:3UTRS;EXON

Gene Symbol:DPYD
Accession:XM_047448077
Location:3UTRS;EXON

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

Gene Symbol:DPYD
Accession:NM_000110
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 RCV000260079 CLINVAR
dbSNP (RS) rs55992536 CLINVAR
MedGen C1959620 CLINVAR
NCBI Gene DPYD CLINVAR
OMIM 274270 CLINVAR
  612779 CLINVAR