Product Details

SNP ID

rs72552300

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:38352763 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAAATGGTCACAACTTCATGGTT[C/T]GAAATTTTCGGTAAGTGATGGTCAG

Phenotype

MIM: 300461

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

OTC PubMed Links

Gene Details

Gene

OTC

Gene Name

ornithine carbamoyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000531.5	236	Nonsense Mutation	CGA,TGA	R23*	NP_000522.3
XM_017029556.1	236	Nonsense Mutation	CGA,TGA	R23*	XP_016885045.1

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