RGD:14724710 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:14724710 -  Homo sapiens

RGD ID: 14724710
RS ID: rs9893041
ClinVar ID: CV668984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JUP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 39,913,477
GRCh38 17 41,757,225
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352773.2:c.2046+190T>C
NM_001352775.2:c.2046+190T>C
NM_001352776.2:c.2046+190T>C
NM_001352777.2:c.2046+190T>C
More... 		06/16/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:JUP
Accession:NM_001352774
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435940
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435938
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435937
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721875
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721874
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352773
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435941
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352776
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435942
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435939
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435935
Location:INTRON

Gene Symbol:JUP
Accession:NM_002230
Location:INTRON

Gene Symbol:JUP
Accession:XM_011524758
Location:INTRON

Gene Symbol:JUP
Accession:XM_017024590
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352775
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435934
Location:INTRON

Gene Symbol:JUP
Accession:NM_021991
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352777
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000833108 CLINVAR
dbSNP (RS) rs9893041 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene JUP CLINVAR
OMIM 173325 CLINVAR