RGD:28887200 Rat Genome Database

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Variant: RGD:28887200 -  Homo sapiens

RGD ID: 28887200
RS ID: rs990062943
ClinVar ID: CV895937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MOCS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 39,873,330
GRCh38 6 39,905,554
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.*1571C>T
NM_001358533.2:c.*1571C>T
NG_009297.1:g.33925C>T
NR_033233.2:n.2584C>T
More... 		01/13/2018 3 prime utr variant 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_005943
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_001358534
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:NM_001358533
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001151385 CLINVAR
dbSNP (RS) rs990062943 CLINVAR
MedGen C1854988 CLINVAR
NCBI Gene MOCS1 CLINVAR
OMIM 252150 CLINVAR
  603707 CLINVAR