RGD:15183751 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:15183751 -  Homo sapiens

RGD ID: 15183751
RS ID: rs138175630
ClinVar ID: CV778906
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OBSL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 220,428,357
GRCh38 2 219,563,635
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001173408.2:c.2408-8C>T
NM_001173431.2:c.2408-8C>T
NM_015311.3:c.2408-8C>T
NG_016977.1:g.12912C>T
More... 		02/06/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:OBSL1
Accession:NM_001173431
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_011510865
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_047443799
Location:INTRON

Gene Symbol:OBSL1
Accession:NM_015311
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_011510857
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_011510866
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_017003698
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_017003700
Location:INTRON

Gene Symbol:OBSL1
Accession:NM_001173408
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_011510863
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_017003696
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_017003697
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_011510864
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_017003699
Location:INTRON

Gene Symbol:OBSL1
Accession:XM_047443800
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000974949 CLINVAR
dbSNP (RS) rs138175630 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene OBSL1 CLINVAR
OMIM 610991 CLINVAR