RGD:11654339 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:11654339 -  Homo sapiens

RGD ID: 11654339
RS ID: rs886057991
ClinVar ID: CV292564
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP2C1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 130,721,449
GRCh38 3 131,002,605
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001199185.2:c.2629+2946G>A
NM_001199183.2:c.2676+1291G>A
NC_000003.11:g.130721449G>A
NM_001199181.3:c.*1255G>A
More... 		01/12/2018 3 prime utr variant uncertain significance adult Hailey Hailey disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP2C1
Accession:NM_014382
Location:3UTRS;EXON

Gene Symbol:ATP2C1
Accession:NM_001378687
Location:3UTRS;EXON

Gene Symbol:ATP2C1
Accession:XM_047447965
Location:3UTRS;EXON

Gene Symbol:ATP2C1
Accession:NM_001199184
Location:3UTRS;EXON

Gene Symbol:ATP2C1
Accession:NM_001199181
Location:3UTRS;EXON

Gene Symbol:ATP2C1
Accession:NM_001199179
Location:3UTRS;EXON

Gene Symbol:ATP2C1
Accession:NM_001001486
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001001485
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199182
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447960
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001378511
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199183
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199180
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199185
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_011512686
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001378514
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001001487
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447966
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447962
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001378513
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447961
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447963
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001378512
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000316565 CLINVAR
dbSNP (RS) rs886057991 CLINVAR
MedGen C0085106 CLINVAR
NCBI Gene ATP2C1 CLINVAR
OMIM 169600 CLINVAR
  604384 CLINVAR
SNOMED CT 79468000 CLINVAR