RGD:15177523 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:15177523 -  Homo sapiens

RGD ID: 15177523
RS ID: rs372046995
ClinVar ID: CV744647
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP5  AQP5-AS1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 50,356,169
GRCh38 12 49,962,386
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001651.4:c.363+6T>G
NG_033883.1:g.5891T>G
NC_000012.12:g.49962386T>G
NC_000012.11:g.50356169T>G
More... 		01/09/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AQP5
Accession:NM_001651
Location:INTRON

Gene Symbol:AQP5
Accession:XM_005268838
Location:INTRON

Gene Symbol:AQP5-AS1
Accession:NR_110590
Location:INTRON;NON-CODING

Gene Symbol:AQP5-AS1
Accession:NR_110589
Location:INTRON;NON-CODING

Gene Symbol:AQP5-AS1
Accession:NR_110591
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000906671 CLINVAR
dbSNP (RS) rs372046995 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 101927318 CLINVAR
  AQP5 CLINVAR
OMIM 600442 CLINVAR