Product Details

SNP ID

rs139917471

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29663896 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATAACAAGTGACCCTAAGGCCGA[C/T]AGCACTGGGGACCAGACCTCAGCCC

Phenotype

MIM: 606248 MIM: 182160

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

QPRT PubMed Links

Gene Details

Gene

QPRT

Gene Name

quinolinate phosphoribosyltransferase

There are no transcripts associated with this gene.

Gene

SPN

Gene Name

sialophorin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001030288.2	333	Silent Mutation	GAC,GAT	D56D	NP_001025459.1
NM_003123.4	333	Silent Mutation	GAC,GAT	D56D	NP_003114.1

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