RGD:11602065 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:11602065 -  Homo sapiens

RGD ID: 11602065
RS ID: rs565111801
ClinVar ID: CV309939
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKR1D1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 137,802,627
GRCh38 7 138,117,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023342.1:g.46450C>T
NC_000007.14:g.138117881C>T
NC_000007.13:g.137802627C>T
NM_001190906.2:c.*1219C>T
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AKR1D1
Accession:NM_001190906
Location:3UTRS;EXON

Gene Symbol:AKR1D1
Accession:NM_001190907
Location:3UTRS;EXON

Gene Symbol:AKR1D1
Accession:XM_047420763
Location:3UTRS;EXON

Gene Symbol:AKR1D1
Accession:NM_005989
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000287835 CLINVAR
dbSNP (RS) rs565111801 CLINVAR
MedGen C1856127 CLINVAR
NCBI Gene AKR1D1 CLINVAR
OMIM 235555 CLINVAR
  604741 CLINVAR