Table 1.
NCBI SNP ID | Exon | Positiona | Allele | Nucleotide Change (5′ to 3′) | Amino Acid substitution | N | ||
---|---|---|---|---|---|---|---|---|
wt/wt | wt/v | v/v | ||||||
rs1867351 | 1 | 156 | T>C | agagT/Ccctg | Ser52Ser | 18 | 6 | 4 |
rs12208357 | 1 | 181 | C>T | ccagC/Tgctg | Arg61Cys | 27 | 1 | |
Novel | 1 | 283 | T>C | ggacT/Cggaa | Trp95Cys | 27 | 1 | |
Novel | 1 | 343 | C>T | gagcC/Tacct | His115Tyr | 27 | 1 | |
rs683369 | 2 | 480 | C>G | tcttC/Gtttg | Leu160Phe | 22 | 5 | 1 |
rs3413415 | 3 | 558 | C>T | tcaaC/Tgcgg | Asn186Asn | 27 | 1 | |
rs2282143 | 6 | 1022 | C>T | acgcC/Tgcgc | Pro341Leu | 24 | 1 | |
rs34205214 | 6 | 1025 | G>A | ccgcG/Acctg | Arg342His | 23 | 1 | |
rs34130495 | 7 | 1201 | G>A | cgtgG>Agccg | Gly401Ser | 27 | 1 | |
rs628031 | 7 | 1222 | A>G | ggccA/Gtgtc | Met408Val | 5 | 10 | 13 |
rs34888879 | 7 | 1239 | G>A | tggcG/Agggg | Ala413Ala | 27 | 1 | |
rs72552763 | 7 | 1260 | GAT>del | tcatGAT/-tttt | Met420del | 20 | 7 | 1 |
rs35270274 | 9 | 1463 | G>T | ctgaG/Tggag | Arg488Met | 23 | 1 | |
rs41267797 | 10 | 1503 | G>A | cggtG/Attgg | Val501Val | 24 | 4 | |
rs78899680 | 10 | 1555 | G>T | ggggG/Ttcgc | Val519Phe | 27 | 1 |
A of the translation initiation codon ATG is numbered 1
wt, wild type; v, variant