Table 1.
refSNP No. | HGVS Names | Other Names | Reference | |||
---|---|---|---|---|---|---|
rs654784175 | NC_030808.1:g.34236325C > A | c.682G > T | p.A228S | Ex 6 17 G > T | HinfI * | [19] |
rs670830003 | NC_030808.1:g.34236284A > C | c.723T > G | p.S241S | Ex 6 58 T > G | DdeI | [16] |
rs641347841 | NC_030808.1:g.34236170A > G | c.837T > C | p.S279S | Ex 6 172 T > C | AluI | [14] |
rs663413486 | NC_030808.1:g.34236021A > G | c.876 + 110T > C | 3′UTR 110 T > C | PstI | [15] |
Note: HGVS, Human Genome Variation Society. * The restriction endonuclease site (GANTC) was verified in the present study. The refSNP No. and HGVS names from Ensembl database (http://asia.ensembl.org/index.html).