SNP name | Region | Amino acid substitution | Allele 1 freq | Allele 2 freq | Flanking sequence | Typing | db SNP ID |
---|---|---|---|---|---|---|---|
-608C>G | promoter | Â | 0.9877 | 0.0123 | cgccgcgccg[c/g]gctggaggcc | Â | Â |
-548G>A | promoter | Â | 0.9813 | 0.0187 | cgcagcccgc[g/a]gcccgctcgc | Â | Â |
271420T>C | intron6 | Â | 0.5989 | 0.4011 | ttgtagtcag[t/c]gtattttcag | Taqman | rs2288774 |
271454A>G | intron6 | Â | 0.7692 | 0.2308 | caccacggtg[a/g]agaaggctga | Taqman | rs2288775 |
296921-296923delTTG | intron13 | Â | 0.7381 | 0.2619 | ttgcgttg[ttg/---]tttgggtt | Taqman | Â |
297071G>A | exon14 | R423R | 0.9909 | 0.0091 | AGATCCGCCG[G/A]CCTCGTAGCC | Â | Â |
312644T>G | intron18 | Â | 0.9731 | 0.0269 | tcttgtgtat[t/g]actgataacg | Â | Â |
312671C>T | intron18 | Â | 0.9624 | 0.0376 | caagggacaa[c/t]ggtgattgag | Â | Â |
325828A>G | intron22 | Â | 0.9765 | 0.0235 | atcaccgggc[a/g]ctcgtgtctt | Â | Â |
340782G>C | intron24 | Â | 0.9892 | 0.0108 | actccctgtt[g/c]cggagaaagc | Â | Â |
351555C>T | exon30 | A944A | 0.9944 | 0.0056 | TTCTCATGGC[C/T]GTGGAAAATG | Â | Â |