rs147883552 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 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
Advanced Search (OLGA)

Variant: rs147883552 -  Homo sapiens

RGD ID: 150491330
RS ID: rs147883552
ClinVar ID: CV1239263
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PARK7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 8,029,509
GRCh38 1 7,969,449
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001123377.2:c.252+45_252+46insA
NM_007262.5:c.252+45_252+46insA
NG_008271.1:g.12796_12797insA
NC_000001.11:g.7969449_7969450insA
More... 		08/17/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PARK7
Accession:NM_007262
Location:INTRON

Gene Symbol:PARK7
Accession:XM_005263424
Location:INTRON

Gene Symbol:PARK7
Accession:NM_001123377
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001654831 CLINVAR
dbSNP (RS) rs147883552 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PARK7 CLINVAR
OMIM 602533 CLINVAR