Polymorphisms of the ERGIC-53 Gene
| Location . | Polymorphism . |
|---|---|
| Exon 1-A | G31 → A, Arg14 → Gln |
| Exon 1-B | C116 → T, Val39 → Arg |
| Exon 2 | G351 → A, silent |
| Intron 4 | del GT(+5 → +12) |
| Intron 63-150 | ins T in pyrimidine tract T12 at 3′ of intron (−10 → −21) |
| Intron 73-150 | ins TGGT(+40) |
| Exon 8 | C936 → T, silent |
| Exon 11 | A1228 → T, Met410 → Leu |
| Intron 11 | C(+14) → T |
| Location . | Polymorphism . |
|---|---|
| Exon 1-A | G31 → A, Arg14 → Gln |
| Exon 1-B | C116 → T, Val39 → Arg |
| Exon 2 | G351 → A, silent |
| Intron 4 | del GT(+5 → +12) |
| Intron 63-150 | ins T in pyrimidine tract T12 at 3′ of intron (−10 → −21) |
| Intron 73-150 | ins TGGT(+40) |
| Exon 8 | C936 → T, silent |
| Exon 11 | A1228 → T, Met410 → Leu |
| Intron 11 | C(+14) → T |
These two intron polymorphisms are in complete linkage disequilibrium.