SNPs detected in the CYP2D6 gene in 51 Korean subjects a
Location | SNP and Surrounding Sequence (5′ to 3′) | Effect | Subject No. (Frequency %) | |
|---|---|---|---|---|
| -1770G>A | 5′-Flanking | GTGGATGATCCCG/ATAGAAGTCCAGA | 17 (16.7) | |
| -1584C>G | 5′-Flanking | CTTGGAAGAACCC/GGGTCTCTACAAA | 15 (14.6) | |
| -1426C>T | 5′-Flanking | CTACTGAAAATAC/TAAAAAGCTAGAC | 53 (51.0) | |
| -1235A>G | 5′-Flanking | AAAAAAAAAAAGA/GATTAGGCTGGGT | 73 (70.8) | |
| -1000G>A | 5′-Flanking | GTGGAGGAGGACG/AACCCTCAGGCAG | 53 (51.0) | |
| -740C>T | 5′-Flanking | GAGAATGTGTGCC/TCTAAGTGTCAGT | 18 (17.7) | |
| -678G>A | 5′-Flanking | GTGATTTTCTGCG/ATGTGTAATCGTG | 18 (17.7) | |
| -498C>A | 5′-Flanking | CCCAGGTAAGTGC/ACAGTGACAGATA | 7 (7.3) | |
| -138A>G | 5′-Flanking | ACAGCAGAGGGCA/GAAGGCCATCATC | 1 (1.0) | |
| 100C>T | Exon 1 | GCTGCACGCTACC/TCACCAGGCCCCC | P34S | 53 (51.0) |
| 214G>C | Intron 1 | GGCGGCAGAGGTG/CCTGAGGCTCCCC | 18 (17.7) | |
| 221C>A | Intron 1 | GAGGTGCTGAGGC/ATCCCCTACCAGA | 18 (17.7) | |
| 223C>G | Intron 1 | GGTGCTGAGGCTC/GCCCTACCAGAAG | 18 (17.7) | |
| 227T>C | Intron 1 | CTGAGGCTCCCCT/GACCAGAAGCAAA | 18 (17.7) | |
| 232G>C | Intron 1 | GCTCCCCTACCAG/CAAGCAAACATGG | 18 (17.7) | |
| 233A>C | Intron 1 | CTCCCCTACCAGA/CAGCAAACATGGA | 18 (17.7) | |
| 245A>G | Intron 1 | AAGCAAACATGGA/GTGGTGGGTGAAA | 18 (17.7) | |
| 310G>T | Intron 1 | GGTTTGGGGGACG/TCCTGGAGAAGGG | 71 (68.8) | |
| 746C>G | Intron 1 | ACCCCCGCCCCAC/GATCAGGAGGCT | 18 (17.7) | |
| 843T>G | Intron 1 | TGTAGTCTGGGGT/GGATCCTGGCTTG | 70 (67.7) | |
| 1039C>T | Exon 2 | GATCCTGGGTTTC/TGGGCCGCGTTCC | 53 (51.0) | |
| 1611T>A | Exon 3 | CCCCCAGGGGTGT/ATCCTGGCGCGCT | F120I | 3 (3.1) |
| 1661G>C | Exon 3 | GCGCTTCTCCGTG/CTCCACCTTGCGC | 70 (67.7) | |
| 1790A>G | Intron 3 | GCACAAAGCGGGA/GACTGGGAAGGCG | 2 (2.1) | |
| 1887insTA | Exon 4 | TTGGACAAAGCCGTG-/TAAGCAACGTGATCGCC | S183Stop | 1 (1.0) |
| 2097A>G | Intron 4 | AGCAGGATTTGCA/GTAGATGGGTTTG | 52 (50.0) | |
| 2303C>T | Intron 4 | GGTGGAGGCTGGC/TACTTGGGGAGGG | 4 (4.2) | |
| 2663G>A | Intron 5 | GGTGGGGTTGAGCG/ATCCCAGGAGGAA | 13 (12.5) | |
| 2850C>T | Exon 6 | GATGAGAACCTGC/TGCATAGTGGTGG | R296C | 18 (17.7) |
| 2988G>A | Intron 6 | GGGCCGAGGGAGG/AAAGGGTACAGGC | 2 (2.1) | |
| 3384A>C | Intron 7 | CTCAGCACCAGCA/CCCTGGTGATAGC | 71 (68.8) | |
| 3582A>G | Intron 7 | TTGGAGGACCCAA/GCGCCTGCAGGGA | 52 (50.0) | |
| 3584G>A | Intron 7 | GGAGGACCCAACG/ACCTGCAGGGAGA | 18 (17.7) | |
| 3790C>T | Intron 7 | CACCCTGCATCTC/TCTGCCCAGGGAA | 18 (17.7) | |
| 3877G>A | Exon 8 | CGCTTCCACCCCG/AAACACTTCCTGG | E418K | 2 (2.1) |
| 4180G>C | Exon 9 | CTTTCCTGGTGAG/CCCCATCCCCCTA | S486T | 70 (67.7) |
| 4401C>T | 3′-Flanking | GAGACAGGGGTAC/TGTTGAGGCTGAG | 53 (51.0) | |
| 4481G>A | 3′-Flanking | CTGCCCAGATTGG/ATGACAAGGACTA | 17 (16.7) | |
| Total deletion |
|
|
| 4 (5.9) |
↵ a The number indicates the position in the CYP2D6 gene relative to the start codon of translation. The accession number of the CYP2D6 genomic DNA is M33388. Nucleotide change is indicated by bold and underline.