RGD:150436223 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:150436223 -  Homo sapiens

RGD ID: 150436223
RS ID: rs41309651
ClinVar ID: CV1274888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHKB-CPT1B  CPT1B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 51,009,487
GRCh38 22 50,571,058
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004377.4:c.1876-15A>G
NM_152245.3:c.1876-15A>G
NM_152246.3:c.1876-15A>G
NG_012643.1:g.12610A>G
More... 		intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CPT1B
Accession:NM_001145134
Location:INTRON

Gene Symbol:CPT1B
Accession:NM_152246
Location:INTRON

Gene Symbol:CPT1B
Accession:NM_004377
Location:INTRON

Gene Symbol:CPT1B
Accession:NM_001145137
Location:INTRON

Gene Symbol:CPT1B
Accession:NM_001145135
Location:INTRON

Gene Symbol:CPT1B
Accession:NM_152245
Location:INTRON

Gene Symbol:CHKB-CPT1B
Accession:NR_027928
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001703247 CLINVAR
  RCV001724414 CLINVAR
dbSNP (RS) rs41309651 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CHKB-CPT1B CLINVAR
  CPT1B CLINVAR
OMIM 601987 CLINVAR