RGD:405768619 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 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
Advanced Search (OLGA)

Variant: RGD:405768619 -  Homo sapiens

RGD ID: 405768619
ClinVar ID: CV3363354
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENPP3  LOC127407261  OR2A4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 132,022,001
GRCh38 6 131,700,861
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005021.5:c.1412+7237A>C
NM_030908.2:c.541T>G
NG_109232.1:g.461A>C
NG_033982.1:g.68560A>C
More... 		12/17/2023 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OR2A4
Accession:NM_030908
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDNITSIREFLLLGFPVGPRIQMLLFGLFSLFYVFTLLGNGTILGLISLDSRLHAPMYFFLSHLAVVDIAYACNTVPRM
LVNLLHPAKPISFAGRMMQTFLFSTFAVTECLLLVVMSYDLYVAICHPLRYLAIMTWRVCITLAVTSWTTGVLLSLIHLV
LLLPLPFCRPQKIYHFFCEILAVLKLACADTHINENMVLAGAISGLVGPLSTIVVSYMCILCAILQIQSREVQRKAFRTC
FSHLCVIGLVYGTAIIMYVGPRYGNPKEQKKYLLLFHSLFNPMLNPLICSLRNSEVKNTLKRVLGVERAL*

Gene Symbol:ENPP3
Accession:NM_005021
Location:INTRON

Gene Symbol:ENPP3
Accession:XM_017010932
Location:INTRON

Gene Symbol:ENPP3
Accession:XM_011535897
Location:INTRON

Gene Symbol:ENPP3
Accession:NR_133007
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004501878 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ENPP3 CLINVAR
  OR2A4 CLINVAR
OMIM 602182 CLINVAR