RGD:28899726 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:28899726 -  Homo sapiens

RGD ID: 28899726
RS ID: rs41529249
ClinVar ID: CV883220
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASP10  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 202,083,310
GRCh38 2 201,218,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_33t1:c.*846A>G
NM_001206524.2:c.*846A>G
NM_001230.5:c.*846A>G
NM_032977.4:c.*846A>G
More... 		01/12/2018 3 prime utr variant benign Autoimmune lymphoproliferative syndrome type 2; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CASP10
Accession:XM_005246907
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_032977
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:XM_047446016
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_001230
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_032976
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_001206524
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_001306083
Location:INTRON

Gene Symbol:CASP10
Accession:NM_032974
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001206542
Location:INTRON

Gene Symbol:CASP10
Accession:XR_007082551
Location:INTRON;NON-CODING

Gene Symbol:CASP10
Accession:XR_923044
Location:INTRON;NON-CODING

Gene Symbol:CASP10
Accession:XR_923043
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001142476 CLINVAR
dbSNP (RS) rs41529249 CLINVAR
MedGen C1858968 CLINVAR
NCBI Gene CASP10 CLINVAR
OMIM 601762 CLINVAR
  603909 CLINVAR