Table 2.
Location on gene | SNP Position | Base change (wt/mut) | Accession numbera | n (Minor allele frequency)b | |
---|---|---|---|---|---|
Blacksc | Caucasiansc | ||||
5' flanking region (1 689 bp) | −4498 | T/A | rs55920693 | 0 | 7 (0.088) |
−4495 | G/A | rs3774640 | 12 (0.146) | 16 (0.200) | |
−4377 | C/G | NI-1 | 1 (0.012) | 0 | |
−4320 | G/A | rs3774639 | 5 (0.061) | 34 (0.425) | |
−4087 | C/T | rs3774638 | 12 (0.146) | 16 (0.200) | |
−4077 | G/A | rs115192433 | 4 (0.049) | 0 | |
−3996 | G/A | rs56354570 | 0 | 1 (0.013) | |
−3877 | C/T | rs7627147 | 26 (0.317) | 1 (0.013) | |
−3674 | G/C | rs2234350 | 6 (0.073) | 20 (0.250) | |
−3651 | G/A | rs2234351 | 12 (0.146) | 16 (0.200) | |
−3466 | A/G | rs2234352 | 7 (0.085) | 0 | |
−3173 | T/C | rs5375415933 | 0 | 1 (0.013) | |
| |||||
Intron (2 921bp) | −2851 | T/C | rs55642383 | 1 (0.012) | 0 |
−2627 | C/G | rs6785091 | 40 (0.488) | 8 (0.100) | |
−2376 | T/C | rs6802841 | 4 (0.049) | 0 | |
−1922 | T/C | rs56196539 | 5 (0.061) | 0 | |
−1755 | A/C | rs3774635 | 21 (0.256) | 34 (0.425) | |
−1695 | G/A | rs56184849 | 1 (0.012) | 0 | |
−1629 | A/G | NI-2 | 1 (0.012) | 0 | |
−1532 | G/C | rs3774634 | 22 (0.268) | 34 (0.425) | |
−1351 | C/A | rs936939 | 12 (0.146) | 16 (0.200) | |
−1091 | C/T | rs146431762 | 3 (0.037) | 0 | |
−975 | G/A | rs6766548 | 3 (0.037) | 1 (0.013) | |
−678 | G/A | rs74427539 | 2 (0.024) | 0 | |
−108 | G/C | rs2234353 | 1 (0.012) | 0 | |
| |||||
ORF (1 029 bp) | +7 | G/A | rs2234355 | 42 (0.512) | 1 (0.013) |
| |||||
3' UTR (2 369 bp) | +1071 | G/T | rs2234358 | 45 (0.549) | 41 (0.500) |
+1150 | T/C | rs2234359 | 15 (0.183) | 0 | |
+1546 | T/C | rs17078463 | 3 (0.037) | 1 (0.013) | |
+1603 | G/A | rs60514862 | 1 (0.012) | 0 | |
+1605 | C/G | rs55698153 | 3 (0.037) | 0 | |
+1622 | A/G | NI-3 | 0 | 1 (0.013) | |
+1900 | C/T | rs56332428 | 4 (0.049) | 7 (0.088) | |
+1923 | C/T | rs9825221 | 8 (0.098) | 0 | |
+1948 | G/T | rs71325095 | 2 (0.024) | 7 (0.088) | |
+2016 | T/C | rs114052321 | 10 (0.122) | 0 | |
+2144 | A/G | rs17078464 | 25 (0.305) | 1 (0.013) | |
+2244 | A/G | rs2054866 | 21 (0.256) | 34 (0.425) |
Accession numbers of SNPs detected in this study which been previously reported in the SNP database (dbSNP) are listed here, NI indicates putative newly identified polymorphisms not found in dbSNP.
Frequency was calculated for both populations using total number of alleles, i.e., n=82 for Black individuals and n=80 for Caucasian individuals.
Grey shading highlights poylmorphisms where frequencies differ significantly (P<0.05) between the two study populations.