Product Details

SNP ID
rs11538879
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:29694912 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGCTGGTGCCGGTGGCCAGAGTG[A/G]CCGAGGTCCGGGGCCCTGCCCACTG
Phenotype
MIM: 606248
Polymorphism
A/G, 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_001318249.1 452 Intron NP_001305178.1
NM_001318250.1 452 Intron NP_001305179.1
NM_014298.4 452 Missense Mutation ACC,GCC T88A NP_055113.2
XM_005255223.3 452 Intron XP_005255280.2
XM_017023101.1 452 Intron XP_016878590.1

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