RGD:11617221 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:11617221 -  Homo sapiens

RGD ID: 11617221
ClinVar ID: CV341107
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP2K1  SNAPC5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 66,783,610
GRCh38 15 66,491,272
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_725t1:c.*657G>A
NM_002755.3:c.*657G>A
LRG_725:g.109400G>A
NG_008305.1:g.109400G>A
More... 		06/14/2016 3 prime utr variant likely benign Cardiofaciocutaneous syndrome; CFC syndrome; Noonan's syndrome; Pseudo-Turner syndrome

Variant Details
Variant Transcripts
Gene Symbol:MAP2K1
Accession:NM_002755
Location:3UTRS;EXON

Gene Symbol:MAP2K1
Accession:XM_017022411
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:MAP2K1
Accession:XM_011521783
Location:3UTRS;EXON

Gene Symbol:MAP2K1
Accession:NM_001411065
Location:3UTRS;EXON

Gene Symbol:SNAPC5
Accession:NM_006049
Location:3UTRS;INTRON

Gene Symbol:SNAPC5
Accession:NM_001329613
Location:INTRON

Gene Symbol:SNAPC5
Accession:NM_001329615
Location:INTRON

Gene Symbol:SNAPC5
Accession:NM_001329614
Location:INTRON

Gene Symbol:SNAPC5
Accession:NR_138061
Location:INTRON;NON-CODING

Gene Symbol:SNAPC5
Accession:XR_007064416
Location:INTRON;NON-CODING

Gene Symbol:SNAPC5
Accession:XR_007064417
Location:INTRON;NON-CODING

Variant Samples