Product Details

SNP ID

hCV25471983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29694886 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTCCTGGTTCCTCCCCGAGGGAT[T/C]GAAGCTGGTGCCGGTGGCCAGAGTG

Phenotype

MIM: 606248

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

QPRT PubMed Links

Gene Details

Gene

QPRT

Gene Name

quinolinate phosphoribosyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318249.1	426	Intron			NP_001305178.1
NM_001318250.1	426	Intron			NP_001305179.1
NM_014298.4	426	Missense Mutation	TCG,TTG	S79L	NP_055113.2

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