Table 2
Polymorphisms identified in hHb1, hHB3, or hHB6 and genotyping
| Gene | Location | SNP allele | Type | Amino acid residue/position | Codon position | Detection method | Allele frequency |
|---|---|---|---|---|---|---|---|
| hHb1 | 416/exon2 | A/C | Coding-nonsynon | Q139P | 2 | PstI | A = 0.83, C = 0.17 |
| hHb1 | IVS4+4 | C/T | Intron | – | – | Cac8I | C = 0.76, T = 0.24 |
| hHb3 | 445/exon2 | C/T | Coding-nonsynon | C149R | 1 | BstUI | C = 0.88, T = 0.12 |
| hHb3 | 558/exon2 | C/T | Coding-synon | N186N | 3 | BsL1 | C = 0.74, T = 0.26 |
| hHb6 | 197/exon1 | G/A | Coding-nonsynon | R66H | 2 | BsrBI | G = 0.96, A = 0.04 |
| hHb6 | 348/exon1 | G/A | Coding-synon | R116R | 3 | TfiI | G = 0.86, A = 0.14 |
| hHb6 | 416/exon2 | A/C | Coding-nonsynon | Q139P | 2 | PstI | A = 0.83, C = 0.17 |
