RGD:150406098 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:150406098 -  Homo sapiens

RGD ID: 150406098
RS ID: rs761285006
ClinVar ID: CV1177636
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT81  KRT86  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 52,696,875
GRCh38 12 52,303,091
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320198.2:c.370-9G>A
NG_008086.2:g.33447G>A
NC_000012.12:g.52303091G>A
NC_000012.11:g.52696875G>A
 10/05/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KRT81
Accession:XM_047428838
Location:5UTRS;EXON

Gene Symbol:KRT86
Accession:XM_005268866
Location:INTRON

Gene Symbol:KRT81
Accession:NM_002281
Location:INTRON

Gene Symbol:KRT86
Accession:NM_001320198
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001545156 CLINVAR
dbSNP (RS) rs761285006 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KRT81 CLINVAR
  KRT86 CLINVAR
OMIM 601928 CLINVAR
  602153 CLINVAR