rs150131853 Rat Genome Database

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Variant: rs150131853 -  Homo sapiens

RGD ID: 28902185
RS ID: rs150131853
ClinVar ID: CV896241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MOCS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 39,883,805
GRCh38 6 39,916,061
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001075098.4:c.583+7G>A
NM_001358529.2:c.583+7G>A
NM_001358530.2:c.583+7G>A
NG_009297.1:g.23450G>A
More... 		12/23/2023 intron variant conflicting interpretations of pathogenicity|uncertain significance Molybdenum Cofactor Deficiency A; Molybdenum cofactor deficiency, complementation group A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MOCS1
Accession:NM_001358533
Location:INTRON

Gene Symbol:MOCS1
Accession:XM_047418828
Location:INTRON

Gene Symbol:MOCS1
Accession:NM_001358530
Location:INTRON

Gene Symbol:MOCS1
Accession:NM_001358534
Location:INTRON

Gene Symbol:MOCS1
Accession:NM_001358529
Location:INTRON

Gene Symbol:MOCS1
Accession:NM_001075098
Location:INTRON

Gene Symbol:MOCS1
Accession:NM_005943
Location:INTRON

Gene Symbol:MOCS1
Accession:NM_001358531
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001157021 CLINVAR
dbSNP (RS) rs150131853 CLINVAR
MedGen C1854988 CLINVAR
NCBI Gene MOCS1 CLINVAR
OMIM 252150 CLINVAR
  603707 CLINVAR