RGD:11580696 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:11580696 -  Homo sapiens

RGD ID: 11580696
RS ID: rs145186308
ClinVar ID: CV226095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UPK3A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 45,681,971
GRCh38 22 45,286,090
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
NC_000022.11:g.45286090G>A
NC_000022.10:g.45681971G>A
NP_001161046.1:p.Asp68Asn
NP_008884.1:p.Asp68Asn
More... 		06/14/2016 missense variant uncertain significance antenatal 1-5 / 10 000 HEREDITARY RENAL APLASIA; RENAL APLASIA; Urogenital adysplasia, hereditary
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Renal agenesis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:UPK3A
Accession:NM_006953
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPLWALLALGCLRFGSAVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSKEALTGTHEVYLYVLVNSAISRNASVQDS
TNTPLGSTFLQTEGGRTGPYKAVAFDLIPCSDLPSLDAIGDVSKASQILNAYLVRVGANGTCLWDPNFQGLCNAPLSAAT
EYRFKYVLVNMSTGLVEDQTLWSDPIRTNQLTPYSTIDTWPGRRSGGMIVITSILGSLPFFLLVGFAGAIALSLVDMGSS
DGETTHDSQITQEAVPKSLGASESSYTSVNRGPPLDRAEVYSSKLQD*

Gene Symbol:UPK3A
Accession:NM_001167574
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPLWALLALGCLRFGSAVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSKEALTGTHEVYLYVLVNSVTPYSTIDTWP
GRRSGGMIVITSILGSLPFFLLVGFAGAIALSLVDMGSSDGETTHDSQITQEAVPKSLGASESSYTSVNRGPPLDRAEVY
SSKLQD*
Variant Samples
Additional References at PubMed
PMID:27657687  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000341617 CLINVAR
dbSNP (RS) rs145186308 CLINVAR
MedGen C1619700 CLINVAR
NCBI Gene UPK3A CLINVAR
OMIM 191830 CLINVAR
  611559 CLINVAR