Table 1.
SNPa | rs identifierb | SNP500 Cancer IDc | Amino acid change | NAT1 allele/haplotype | Functional effectd |
---|---|---|---|---|---|
21T>G | 4986992 | NAT1-18 | L7L | NAT1*27 | Synonymous |
97C>T | 56318881 | NAT1-11 | R33X | NAT1*19 | Decrease |
190C>T | 56379106 | NAT1-19 | R64W | NAT1*17 | Decrease |
363C>T | 8190858 | NAT1-26 | V121V | Synonymous | |
402T>C | P134P | NAT1*20 | Synonymous | ||
445G>A | 4987076 | NAT1-05 | V149I | NAT1*11 | |
459G>A | 4986990 | NAT1-06 | T153T | NAT1*11 | Synonymous |
559C>T | 5030839 | NAT1-10 | R187X | NAT1*15 | Decrease |
560G>A | 4986782 | NAT1-07 | R187Q | NAT1*14 | Decrease |
613A>G | M205V | NAT1*21 | None | ||
640T>G | 4986783 | S214A | NAT1*11 | ||
752A>T | D251V | NAT1*22 | Decrease | ||
777T>C | 4986991 | NAT1-15 | S259S | NAT1*23 | Synonymous |
781G>A | E261K | NAT1*24 | None | ||
787A>G | I263V | NAT1*25 | None |
Reference gene sequence published in Genbank Assession Number X17059. Adapted from http://N-acetyltransferasenomenclature.louisville.edu
Not all SNPs have been designated.
Accessed from http://snp500cancer.nci.nih.gov/snplist.cfm?gene_id=NAT1&mode=valid. This SNP nomenclature is distinct from the NAT1 allele (haplotype) nomenclature.
SNPs are non-synonymous unless otherwise indicated. Only functional effects supported with experimental data are provided.