RGD:153000684 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:153000684 -  Homo sapiens

RGD ID: 153000684
RS ID: rs376422456
ClinVar ID: CV1684239
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 2,081,787
GRCh38 9 2,081,787
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
LRG_882:g.106498C>T
NC_000009.12:g.2081787C>T
NC_000009.11:g.2081787C>T
NM_139045.4:c.2185-45C>T
More... 		12/14/2021 likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SMARCA2
Accession:NM_003070
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_139045
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289397
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289396
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289398
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289399
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289400
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002255215 CLINVAR
dbSNP (RS) rs376422456 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMARCA2 CLINVAR
OMIM 600014 CLINVAR