TABLE 2.
SINGLE NUCLEOTIDE POLYMORPHISMS IDENTIFIED BY SEQUENCING THE EXTRACELLULAR SUPEROXIDE DISMUTASE PROMOTER AND GENE
Position* | Location | RS# | Base Change | MAF |
---|---|---|---|---|
−1735 | Promoter | rs2239585 | G → A | 0.019 |
−1294 | Promoter | new | A → G | 0.010 |
−1257 | Promoter | rs2284659 | G → T | 0.394 |
−541 | Promoter | rs13306703 | C → T | 0.125 |
−86 | Promoter | new | G → A | 0.010 |
574 | Exon 1 | rs8192287 | G → T | 0.058 |
598 | Exon 1 | new | T → C | 0.010 |
684 | Intron 1 | rs8192288 | G → T | 0.058 |
809 | Intron 1 | rs699473 | T → C | 0.385 |
1385 | Intron 2 | new | T → C | 0.010 |
1617 | Intron 2 | new | A → C | 0.058 |
1824 | Intron 2 | rs17878863 | A → G | 0.096 |
2054 | Intron 2 | new | C → T | 0.010 |
2187 | Intron 2 | rs2695231 | T → C | 0.356 |
2203 | Intron 2 | rs2536511 | G → A | 0.356 |
2606 | Intron 2 | new | C → T | 0.010 |
3203 | Intron 2 | new | G → A | 0.010 |
3506 | Intron 2 | rs17881426 | T → A | 0.106 |
3576 | Intron 2 | new | T → C | 0.010 |
3707 | Intron 2 | rs17880362 | C → T | 0.019 |
3869 | Intron 2 | rs800444 | A → G | 0.038 |
4691 | Intron 2 | rs1007991 | G → C | 0.317 |
4717 | Intron 2 | new | C → T | 0.010 |
5321 | Exon 3 | rs2536512 | A → G | 0.356 |
5360 | Exon 3 | rs8192291 | C → T | 0.183 |
5955 | Exon 3 | rs2695232 | T → C | 0.327 |
5982 | Exon 3 | rs2855262 | C → T | 0.327 |
6418 | Exon 3 | rs8192290 | T → C | 0.038 |
Definition of abbreviations: RS = reference SNP; MAF = minor allele frequency.
The promoter position includes base pairs upstream of exon 1 and the gene position includes base pairs starting at exon 1.