Nucleotide change NM_002052 | Coding region | Amino acid change | Location | NCBI dbSNP number | Blood samples CHD | Blood samples normal |
---|---|---|---|---|---|---|
NONSYNONYMOUS | Â | Â | Â | Â | Â | Â |
1647 | c.1129A>G | p.Ser377Gly | exon 6 | rs3729856 | 10AA:2AG | Â |
SYNONYMOUS | Â | Â | Â | Â | Â | Â |
1217 | c.699G>A | p.Thr233 | exon 3 | Â | Â | 1 (GA) |
3'-UTR | Â | Â | Â | Â | Â | Â |
1967 | c.+119A>T | Â | exon 7 | Â | 2 (AT) | Â |
3107 | c.+1260G>A | Â | exon 7 | Â | 1 (GA) | Â |
2201 | c.+354A>C | Â | exon 7 | rs867858 | 3AA:9AC | 53AA:36AC:11CC |
2273 | c.+426C>T | Â | exon 7 | rs1062219 | 1CC:8CT:3TT | 39CC:38CT:23TT |
2364 | c.+517T>C | Â | exon 7 | rs884662 | 4TT:5CT:3CC | 43TT:30CT:27CC |
2379 | c.+532T>C | Â | exon 7 | rs904018 | 1TT:5CT: 6CC | 30TT: 30CT:40CC |
2410 | c.+563C>G | Â | exon 7 | rs12825 | 8CC:3CG:1GG | 69CC:11CG:20GG |
2434 | c.+587A>G | Â | exon 7 | rs804291 | 12GG | 100 GG |
3005 | c.+1158C>T | Â | exon 7 | rs11785481 | 7CC:5CT | Â |
3103 | c.+1256A>T | Â | exon 7 | rs12458 | 3AA:9AT | Â |
3202 | c.+1355G>A | Â | exon 7 | rs1062270 | 11GG:1AG | Â |
3368 | c.+1521G>C | Â | exon 7 | rs3293358 | 5CC:6CG:1GG | Â |
INTRONIC | Â | Â | Â | Â | Â | Â |
 | c.-518-25C>T |  | intron |  | 2 (1CT:1TT) |  |
 | c.-458+5A>G |  | intron |  | 1 (AG) |  |
 | c.783+16G>A |  | intron |  |  | 1 (GA) |
 | c.614-61G>C |  | intron | rs10503425 | 8GG:3CG:1CC | 27AA:12AC:3CC |
 | c.997+56A>C |  | intron | rs804280 | 3AA:7AC:2CC |  |