RGD:11658723 Rat Genome Database

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Variant: RGD:11658723 -  Homo sapiens

RGD ID: 11658723
RS ID: rs886061387
ClinVar ID: CV302776
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MOCS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 39,873,710
GRCh38 6 39,905,934
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005943.5:c.*1191C>A
NG_009297.1:g.33545C>A
NC_000006.12:g.39905934G>T
NC_000006.11:g.39873710G>T
More... 		06/14/2016 3 prime utr variant uncertain significance Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase; Molybdenum cofactor deficiency; Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MOCS1
Accession:NM_001075098
Location:3UTRS;EXON

Gene Symbol:MOCS1
Accession:NM_001358529
Location:3UTRS;EXON

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

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

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

Gene Symbol:MOCS1
Accession:NM_001358531
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:NR_033233
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000351174 CLINVAR
dbSNP (RS) rs886061387 CLINVAR
MedGen C0268119 CLINVAR
NCBI Gene MOCS1 CLINVAR
OMIM 603707 CLINVAR
SNOMED CT 29692004 CLINVAR