RGD:11594113 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:11594113 -  Homo sapiens

RGD ID: 11594113
RS ID: rs116237324
ClinVar ID: CV284349
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB3GAP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 135,927,346
GRCh38 2 135,169,776
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016972.1:g.122512T>C
NC_000002.12:g.135169776T>C
NC_000002.11:g.135927346T>C
NM_001172435.2:c.*995T>C
More... 		01/13/2018 3 prime utr variant benign|likely benign Microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB3GAP1
Accession:NM_001172435
Location:3UTRS;EXON

Gene Symbol:RAB3GAP1
Accession:XM_011510825
Location:3UTRS;EXON

Gene Symbol:RAB3GAP1
Accession:NM_012233
Location:3UTRS;EXON

Gene Symbol:RAB3GAP1
Accession:XM_047443732
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XM_011510823
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XR_001738674
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000355814 CLINVAR
dbSNP (RS) rs116237324 CLINVAR
MedGen C1838625 CLINVAR
NCBI Gene RAB3GAP1 CLINVAR
OMIM 600118 CLINVAR
  602536 CLINVAR