RGD:11609781 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:11609781 -  Homo sapiens

RGD ID: 11609781
RS ID: rs751963988
ClinVar ID: CV324080
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902894  SLCO1B3  SLCO1B3-SLCO1B7  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 21,069,791
GRCh38 12 20,916,857
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_032071.1:g.111154A>G
NC_000012.12:g.20916857A>G
NC_000012.11:g.21069791A>G
NM_019844.3:c.*610A>G
More... 		06/14/2016 3 prime utr variant uncertain significance all ages <1 / 1 000 000 Hyperbilirubinemia, Rotor type; HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLCO1B3
Accession:NM_019844
Location:3UTRS;EXON

Gene Symbol:SLCO1B3
Accession:NM_001349920
Location:3UTRS;EXON

Gene Symbol:LOC124902894
Accession:XM_047429949
Location:5UTRS;INTRON

Gene Symbol:SLCO1B3-SLCO1B7
Accession:NM_001371097
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000372822 CLINVAR
dbSNP (RS) rs751963988 CLINVAR
MedGen C0220991 CLINVAR
NCBI Gene SLCO1B3 CLINVAR
  SLCO1B3-SLCO1B7 CLINVAR
OMIM 237450 CLINVAR
  605495 CLINVAR
SNOMED CT 32891000 CLINVAR