RGD:11600859 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:11600859 -  Homo sapiens

RGD ID: 11600859
ClinVar ID: CV306506
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DTNBP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 15,663,209
GRCh38 6 15,662,978
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_588t1:c.-109G>A
LRG_588t2:c.-109G>A
NM_032122.4:c.-109G>A
NM_183040.2:c.-109G>A
More... 		06/14/2016 5 prime utr variant uncertain significance Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells; Delta storage pool disease

Variant Details
Variant Transcripts
Gene Symbol:DTNBP1
Accession:NM_001271667
Location:5UTRS;EXON

Gene Symbol:DTNBP1
Accession:NM_032122
Location:5UTRS;EXON

Gene Symbol:DTNBP1
Accession:NM_001271669
Location:5UTRS;EXON

Gene Symbol:DTNBP1
Accession:NM_001271668
Location:5UTRS;EXON

Gene Symbol:DTNBP1
Accession:NM_183040
Location:5UTRS;EXON

Gene Symbol:DTNBP1
Accession:NR_036448
Location:EXON;NON-CODING

Gene Symbol:DTNBP1
Accession:XM_047419394
Location:INTRON

Gene Symbol:DTNBP1
Accession:XM_011514937
Location:INTRON

Gene Symbol:DTNBP1
Accession:XM_047419395
Location:INTRON

Variant Samples