RGD:11630595 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:11630595 -  Homo sapiens

RGD ID: 11630595
ClinVar ID: CV351404
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 62,037,576
GRCh38 20 63,406,223
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009004.2:g.71418C>T
NC_000020.11:g.63406223G>A
NC_000020.10:g.62037576G>A
NM_172107.2:c.*421C>T
More... 		06/14/2016 3 prime utr variant likely benign

Variant Details
Variant Transcripts
Gene Symbol:KCNQ2
Accession:XM_017027842
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_011528811
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172108
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172106
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027845
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_004518
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:3UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172109
Location:INTRON

Variant Samples