Product Details

SNP ID
rs201988464
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:29694682 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCCAGGCCTGGCGCTGCTGCTGC[C/T]GCCCGTCACCCTGGCAGCCCTGGTG
Phenotype
MIM: 606248
Polymorphism
C/T, 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_001318249.1 222 Intron NP_001305178.1
NM_001318250.1 222 Missense Mutation CCG,CTG P11L NP_001305179.1
NM_014298.4 222 Missense Mutation CCG,CTG P11L NP_055113.2
XM_005255223.3 222 Intron XP_005255280.2
XM_017023101.1 222 Intron XP_016878590.1

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