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rs72554312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72554312(C;C)
Make rs72554312(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38367347
GeneOTC
is asnp
is mentioned by
dbSNPrs72554312
ebirs72554312
HLIrs72554312
Exacrs72554312
Varsomers72554312
Maprs72554312
PheGenIrs72554312
hapmaprs72554312
1000 genomesrs72554312
hgdprs72554312
ensemblrs72554312
gopubmedrs72554312
geneviewrs72554312
scholarrs72554312
googlers72554312
pharmgkbrs72554312
gwascentralrs72554312
openSNPrs72554312
23andMers72554312
23andMe allrs72554312
SNP Nexus

SNPshotrs72554312
SNPdbers72554312
MSV3drs72554312
GWAS Ctlgrs72554312
Max Magnitude0
ClinVar
Risk rs72554312(C;C)
Alt rs72554312(C;C)
Reference rs72554312(T;T)
Significance Pathogenic
Disease Ornithine carbamoyltransferase deficiency not provided
Variation info
Gene OTC
CLNDBN Ornithine carbamoyltransferase deficiency not provided
Reversed 0
HGVS NC_000023.10:g.38226600T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011739.2, RCV000083338.1,



[PMID 2474822OA-icon.png] Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.