Table 2.
Phenotypic effects of single-nucleotide polymorphisms (SNPs) found in the human SLC23A2 gene
| Reference SNP ID | Location | Genetic varianta | References | Alterations in phenotypeb |
|---|---|---|---|---|
| rs1279683 | Intron 1 | c.-375–947 C>T | (97) | Associated with decreased plasma ascorbate levels and increased risk of developing glaucoma |
| rs12479919 | Intron 2 | c.-282+1312 G>A | (2, 27, 28, 94) | Trend toward decreased risk of gastric cancer; considered part of a high-risk bladder cancer phenotype |
| rs2681118 | Intron 2 | c.-282+14050 C>A | (27, 28, 94) | None |
| rs6139591 | Intron 3 | c.-155+80 C>T | (9, 27, 28, 94) | Trend toward increased risk of preterm delivery; no association with serum ascorbate levels |
| rs2681116 | Intron 3 | c.-155+108 A>G | (9, 27, 28, 94) | None, including no association with serum ascorbate levels |
| rs13037458 | Intron 3 | c.-155+224 T>G | (28, 94) | None |
| rs4813725 | Intron 3 | c.-154–4623 G>A | (27, 28, 94) | None |
| rs1776948 | Intron 3 | c.-154–17751 C>T | (82) | None |
| rs1715365 | Intron 4 | c.109–5464 G>A | (27, 28) | None |
| rs6133175 | Intron 5 | c.207+1767 T>C | (82) | None |
| rs1776964 | Exon 7 | c.375 C>T | (27, 28, 94) | None |
| rs4987219 | Intron 9 | c.642+453 G>C | (15, 27, 28) | Decreased risk of head and neck cancer with concurrent HPV infection |
| rs1110277 | Exon 12 | c.1002 C>T | (27, 28, 94) | None |
| rs16990301 | Exon 17 | c.*2203 G>A | (33) | Limited interactions with regulating miRNA; associated with a decreased expression of SVCT2 in cells |
| rs35560557 | Exon 17 | c.*2724 C>T | (27, 28) | None |
a
Variations listed relative to the coding region in the reference sequence NM_005116.6.
b
Effects of genetic polymorphism as described in the references provided.
Abbreviations: HPV, human papillomavirus; miRNA, microRNA; SVCT, sodium-dependent vitamin C transport protein.