RGD:15114686 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:15114686 -  Homo sapiens

RGD ID: 15114686
RS ID: rs8187634
ClinVar ID: CV779363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR1C  SLC29A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 44,199,096
GRCh38 6 44,231,359
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001078175.3:c.767-5C>T
NM_001078177.2:c.767-5C>T
NM_001372327.1:c.767-5C>T
NM_001304466.2:c.842-5C>T
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC29A1
Accession:NM_001078175
Location:INTRON

Gene Symbol:SLC29A1
Accession:NM_001304466
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Gene Symbol:SLC29A1
Accession:XM_005248881
Location:INTRON

Gene Symbol:SLC29A1
Accession:XM_005248880
Location:INTRON

Gene Symbol:SLC29A1
Accession:NM_001304462
Location:INTRON

Gene Symbol:SLC29A1
Accession:XM_005248878
Location:INTRON

Gene Symbol:SLC29A1
Accession:NM_001304465
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Gene Symbol:POLR1C
Accession:XM_047419577
Location:INTRON

Gene Symbol:SLC29A1
Accession:NM_001078177
Location:INTRON

Gene Symbol:SLC29A1
Accession:XM_011514341
Location:INTRON

Gene Symbol:SLC29A1
Accession:XM_005248882
Location:INTRON

Gene Symbol:SLC29A1
Accession:NM_001372327
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:SLC29A1
Accession:XM_005248876
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000961719 CLINVAR
dbSNP (RS) rs8187634 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POLR1C CLINVAR
  SLC29A1 CLINVAR
OMIM 602193 CLINVAR
  610060 CLINVAR