RGD:15145614 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:15145614 -  Homo sapiens

RGD ID: 15145614
RS ID: rs373610682
ClinVar ID: CV759066
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA6  PDK1-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 173,354,393
GRCh38 2 172,489,665
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001316306.2:c.2322+7C>T
NM_001365529.2:c.2634+52C>T
NM_001365530.2:c.2634+52C>T
NM_000210.4:c.2679+7C>T
More... 		05/31/2018 intron variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:EXON;NON-CODING

Gene Symbol:ITGA6
Accession:NM_001394928
Location:INTRON

Gene Symbol:ITGA6
Accession:XM_017004006
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_001365530
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_000210
Location:INTRON

Gene Symbol:ITGA6
Accession:XM_047444221
Location:INTRON

Gene Symbol:ITGA6
Accession:XM_017004005
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_001079818
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_001365529
Location:INTRON

Gene Symbol:ITGA6
Accession:XM_047444222
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_001316306
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:PDK1-AS1
Accession:NR_186178
Location:INTRON;NON-CODING

Gene Symbol:PDK1-AS1
Accession:NR_186177
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000922573 CLINVAR
  RCV002495545 CLINVAR
dbSNP (RS) rs373610682 CLINVAR
MedGen C3661900 CLINVAR
  C5676957 CLINVAR
NCBI Gene ITGA6 CLINVAR
  PDK1-AS1 CLINVAR
OMIM 147556 CLINVAR
  619817 CLINVAR