rs112129067 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: rs112129067 -  Homo sapiens

RGD ID: 11607049
RS ID: rs112129067
ClinVar ID: CV307159
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MOCS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 39,873,806
GRCh38 6 39,906,030
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009297.1:g.33449G>A
NC_000006.12:g.39906030C>T
NC_000006.11:g.39873806C>T
NM_005943.6:c.*1095G>A
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance Molybdenum Cofactor Deficiency A; Molybdenum cofactor deficiency, complementation group A; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MOCS1
Accession:NM_001358529
Location:3UTRS;EXON

Gene Symbol:MOCS1
Accession:XM_047418828
Location:3UTRS;EXON

Gene Symbol:MOCS1
Accession:NM_001358533
Location:3UTRS;EXON

Gene Symbol:MOCS1
Accession:NM_005943
Location:3UTRS;EXON

Gene Symbol:MOCS1
Accession:NM_001358534
Location:3UTRS;EXON

Gene Symbol:MOCS1
Accession:NM_001358530
Location:3UTRS;EXON

Gene Symbol:MOCS1
Accession:NM_001075098
Location:3UTRS;EXON

Gene Symbol:MOCS1
Accession:NM_001358531
Location:3UTRS;EXON

Gene Symbol:MOCS1
Accession:NR_033233
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000338777 CLINVAR
  RCV004705406 CLINVAR
dbSNP (RS) rs112129067 CLINVAR
MedGen C1854988 CLINVAR
  C3661900 CLINVAR
NCBI Gene MOCS1 CLINVAR
OMIM 252150 CLINVAR
  603707 CLINVAR