RGD:13789106 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:13789106 -  Homo sapiens

RGD ID: 13789106
RS ID: rs1208451634
ClinVar ID: CV550061
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: ALDH3A2  
Reference Nucleotide: -
Variant Nucleotide: GGG
Position
Assembly Chr Position
GRCh37 17 19,566,644
GRCh38 17 19,663,331
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369148.2:c.362-1_362insGGG
NM_001369137.2:c.941-1_941insGGG
NM_001369138.2:c.941-1_941insGGG
NM_001369146.2:c.941-1_941insGGG
More... 		03/11/2016 splice acceptor variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ALDH3A2
Accession:NM_001369148
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369146
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001031806
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369139
Location:INTRON

Gene Symbol:ALDH3A2
Accession:XM_024450651
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369136
Location:INTRON

Gene Symbol:ALDH3A2
Accession:XM_047435622
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_000382
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369138
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369137
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000676613 CLINVAR
dbSNP (RS) rs1208451634 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ALDH3A2 CLINVAR
OMIM 609523 CLINVAR