Table 2.
SNPs Genotyped
Gene | Putative | |||
---|---|---|---|---|
Symbol | Gene Name | SNP ID | Chromosome | Function |
AHCY | S-adenosylhomocysteine | rs819146 | 20 | Promoter |
hydrolase | rs819156 | Intron 3 | ||
rs7271501 | Intron 6 | |||
rs819133 | Intron 9 | |||
BHMT | betaine-homocysteine | rs16876512 | 5 | Promoter |
methyltransferase | rs3733890 | R239Q, ESE | ||
rs4703772 | L264, ESE | |||
rs585800 | 3′-UTR, ESE | |||
CBS | cystathionine-b-synthase | rs1788484 | 21 | Promoter |
rs5742905 | I278T, ESE | |||
rs12613 | 3′-UTR, ESE | |||
rs706209 | 3′-UTR, ESE | |||
DHFR | dihydrofolate reductase | rs408626 | 5 | Promoter |
rs1677658 | Promoter | |||
rs1643649 | Intron | |||
MAT2A | methionine adenosyltransferase | rs1078004 | 2 | R264, ESE |
II alpha | rs2043675 | Intron 7 | ||
MAT2B | methionine adenosyltransferase | rs4869087 | Intron 1 | |
II beta | rs12515448 | Intron 2 | ||
rs17061795 | L175, ESE | |||
rs6898075 | Intron 4 | |||
MTHFD1 | methylene-tetrahydrofolate | rs8003379 | 14 | Intron 2 |
dehydrogenase | rs1950902 | K134R | ||
rs8016556 | Intron 16 | |||
rs11627387 | Intron 26 | |||
rs2281603 | Intron 27 | |||
MTHFR | methylene-tetrahydrofolate | rs3737965 | 1 | Promoter |
reductase | rs2066470 | P39, ESE | ||
rs9651118 | Intron 2 | |||
rs2066462 | S352, ESE | |||
rs2274976 | R594Q, ESE | |||
rs4846049 | 3′-UTR | |||
MTR | methyltetrahydrofolate- | rs1805087 | 1 | D919G, ESE |
homocysteine | rs2229276 | A1048, ESE | ||
methyltransferase | rs1131449 | L1192, ESE | ||
rs11799670 | 3′-UTR, ESE | |||
MTRR | methyltetrahydrofolate- | rs326118 | 5 | Promoter |
homocysteine | rs1532268 | S175L | ||
methyltransferase reductase | rs10064631 | L333V, ESE | ||
rs162036 | K350R, TRP | |||
rs2287780 | R415C | |||
rs16879334 | P450R, ESE | |||
rs9282787 | 3′-UTR ESE | |||
rs9282788 | 3′-UTR ESE | |||
rs9332 | 3′-UTR ESE | |||
TYMS | thymidylate synthase | rs2853533 | 18 | Intron 1 |
rs699517 | 3′-UTR ESE | |||
rs2790 | 3′-UTR ESE |
SNP: single nucleotide polymorphism, ESE: exonic splicing element, UTR: mRNA untranslated region, TRP: triple helix regulatory site, rs: reference SNP