DPYD variants identified in 1070 Japanese subjects
| dbSNP rsID | Location | Nucleotide Change | Amino Acid Substitution | Frequency (%) |
|---|---|---|---|---|
| — | Exon 2 | 74A>G | H25R | 0.05 |
| — | Exon 5 | 325T>A | Y109N | 0.23 |
| rs200562975 | Exon 5 | 451A>G | N151D | 0.14 |
| rs2297595 | Exon 6 | 496A>G | M166V | 2.24 |
| rs371792178 | Exon 6 | 524C>T | S175L | 0.05 |
| — | Exon 9 | 893C>T | T298M | 0.05 |
| — | Exon 9 | 937G>T | V313L | 0.05 |
| — | Exon 10 | 1003G>A | V335M | 0.19 |
| — | Exon 10 | 1097G>C | G366A | 0.05 |
| — | Exon 11 | 1139C>T | A380V | 0.05 |
| — | Exon 11 | 1150A>G | K384E | 0.05 |
| — | Exon 11 | 1300G>C | V434L | 0.05 |
| rs148994843 | Exon 13 | 1543G>A | V515I | 0.05 |
| rs1801159 | Exon 13 | 1627A>G (DPYD*5) | I543V | 25.68 |
| rs59086055 | Exon 14 | 1774C>T | R592W | 0.05 |
| rs1801160 | Exon 18 | 2194G>A (DPYD*6) | V732I | 1.82 |
| rs56005131 | Exon 19 | 2303C>A | T768K | 2.20 |
| — | Exon 19 | 2420A>G | H807R | 0.05 |
| — | Exon 20 | 2476G>A | V826M | 0.14 |
| rs188052243 | Exon 21 | 2678A>G | N893S | 0.19 |
| — | Exon 22 | 2777G>T | G926V | 0.05 |