RGD:152169561 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:152169561 -  Homo sapiens

RGD ID: 152169561
RS ID: rs112408035
ClinVar ID: CV1632389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FARSB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 223,496,304
GRCh38 2 222,631,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005687.5:c.786+19C>G
NC_000002.12:g.222631585G>C
NC_000002.11:g.223496304G>C
 02/05/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FARSB
Accession:XM_006712169
Location:INTRON

Gene Symbol:FARSB
Accession:XM_011510466
Location:INTRON

Gene Symbol:FARSB
Accession:NM_005687
Location:INTRON

Gene Symbol:FARSB
Accession:NR_130154
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002142827 CLINVAR
dbSNP (RS) rs112408035 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FARSB CLINVAR
OMIM 609690 CLINVAR