RGD:14727304 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:14727304 -  Homo sapiens

RGD ID: 14727304
RS ID: rs3792341
ClinVar ID: CV659611
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLOD2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 145,809,750
GRCh38 3 146,091,963
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000935.3:c.778-62A>G
NM_182943.3:c.778-62A>G
NG_009251.1:g.74533A>G
NC_000003.12:g.146091963T>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PLOD2
Accession:XM_047448319
Location:INTRON

Gene Symbol:PLOD2
Accession:XM_047448320
Location:INTRON

Gene Symbol:PLOD2
Accession:NM_182943
Location:INTRON

Gene Symbol:PLOD2
Accession:XM_017006625
Location:INTRON

Gene Symbol:PLOD2
Accession:NM_000935
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000834254 CLINVAR
dbSNP (RS) rs3792341 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLOD2 CLINVAR
OMIM 601865 CLINVAR