RGD:13541041 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:13541041 -  Homo sapiens

RGD ID: 13541041
RS ID: rs779470873
ClinVar ID: CV501318
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDSS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 107,515,073
GRCh38 6 107,193,869
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013033.1:g.270707C>T
NC_000006.12:g.107193869G>A
NC_000006.11:g.107515073G>A
NM_020381.4:c.1009-15C>T
More... 		11/02/2017 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PDSS2
Accession:NM_020381
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_011535959
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_011535961
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_011535956
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_047419097
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_011535958
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_011535963
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_017011082
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_047419099
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_047419101
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_047419096
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_011535960
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_011535957
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_047419100
Location:INTRON

Gene Symbol:PDSS2
Accession:XM_047419098
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000615580 CLINVAR
  RCV003767630 CLINVAR
dbSNP (RS) rs779470873 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PDSS2 CLINVAR
OMIM 610564 CLINVAR