RGD:14730238 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:14730238 -  Homo sapiens

RGD ID: 14730238
RS ID: rs782629
ClinVar ID: CV659411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 55,900,283
GRCh38 2 55,673,148
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033109.5:c.680-69T>C
NG_033012.1:g.25763T>C
NC_000002.12:g.55673148A>G
NC_000002.11:g.55900283A>G
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PNPT1
Accession:XM_017005172
Location:INTRON

Gene Symbol:PNPT1
Accession:NM_033109
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_005264629
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_047446161
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000835581 CLINVAR
dbSNP (RS) rs782629 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PNPT1 CLINVAR
OMIM 610316 CLINVAR