RGD:11631942 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:11631942 -  Homo sapiens

RGD ID: 11631942
RS ID: rs542568031
ClinVar ID: CV345532
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPATA22  TRPV3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 3,415,726
GRCh38 17 3,512,432
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001321337.2:c.-74+980G>A
NG_032144.2:g.50564G>A
NC_000017.11:g.3512432C>T
NC_000017.10:g.3415726C>T
More... 		01/12/2018 3 prime utr variant benign|uncertain significance infancy <1 / 1 000 000 Palmoplantar keratoderma, nonepidermolytic, focal 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRPV3
Accession:NM_145068
Location:3UTRS;EXON

Gene Symbol:TRPV3
Accession:NM_001258205
Location:3UTRS;EXON

Gene Symbol:SPATA22
Accession:NM_001321336
Location:5UTRS;INTRON

Gene Symbol:SPATA22
Accession:NM_001321337
Location:5UTRS;INTRON

Gene Symbol:SPATA22
Accession:NM_001170697
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_032598
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170699
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170696
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170698
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170695
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000393122 CLINVAR
dbSNP (RS) rs542568031 CLINVAR
MedGen C4225339 CLINVAR
NCBI Gene SPATA22 CLINVAR
  TRPV3 CLINVAR
OMIM 607066 CLINVAR
  616400 CLINVAR
  617673 CLINVAR