Product Details

SNP ID

rs5917575

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:38356996 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACAGCTCCTTTCTTTTGCATGCATT[C/G]TAATATGCCTTTTTGAGAAGGAAAG

Phenotype

MIM: 300461

Polymorphism

C/G, Transversion 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		Intron			NP_000522.3
XM_017029556.1		Intron			XP_016885045.1

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