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rs72556267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72556267(G;T)
Make rs72556267(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401348
GeneOTC
is asnp
is mentioned by
dbSNPrs72556267
ebirs72556267
HLIrs72556267
Exacrs72556267
Varsomers72556267
Maprs72556267
PheGenIrs72556267
hapmaprs72556267
1000 genomesrs72556267
hgdprs72556267
ensemblrs72556267
gopubmedrs72556267
geneviewrs72556267
scholarrs72556267
googlers72556267
pharmgkbrs72556267
gwascentralrs72556267
openSNPrs72556267
23andMers72556267
23andMe allrs72556267
SNP Nexus

SNPshotrs72556267
SNPdbers72556267
MSV3drs72556267
GWAS Ctlgrs72556267
Max Magnitude0
ClinVar
Risk rs72556267(T;T)
Alt rs72556267(T;T)
Reference rs72556267(G;G)
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.38260601G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011738.9, RCV000083446.1,



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