Table 2 CYP2D6 and ADRB1 variant alleles with rsIDs and subsequent effect on the gene sequence
From: Multiplex SNaPshot—a new simple and efficient CYP2D6 and ADRB1 genotyping method
Allele | Major nucleotide variation | SNV | Effect |
|---|---|---|---|
*1 | Presumed | NA | Wild type |
*2 | 2850C>G | rs16947 | Arg296Cys |
*3 | 2549delA | rs35742686 | Frameshift |
*4 | 100C>T | rs1065852 | Pro34Ser |
1846G>A | s3892097 | Splicing defect | |
*6 | 1707delT | rs5030655 | Frameshift |
*7 | 2935A>C | rs5030867 | His324Pro |
*9 | 2615_2617delAAG | rs5030656 | Lys281del |
*10 | 100C>T | rs1065852 | Pro34Ser |
*12 | 124G>A | rs5030862 | Gly42Arg |
*14 | 1758G>A | rs5030865 | Gly169Arg |
*17 | 1023C>T | rs28371706 | Thr107Ile |
2850C>T | rs16947 | Arg296Cys | |
*19 | 2539_2542delAACT | rs72549353 | 255Frameshift |
*20 | 1973_1974insG | rs72549354 | 211Frameshift |
*38 | 2587_2590delGACT | rs72549351 | 271Frameshift |
*40 | 1863_1864insTTTCGCCCCX2 | rs72549356 | 174_175insFRP × 2 |
*41 | 2850C>T | rs16947 | Arg296Cys |
2988G>A | rs38371725 | Splicing defect | |
*42 | 3259_3260insGT | rs72549346 | 363Frameshift |
*49 | 100C>T | rs1065852 | Pro34Ser |
1611T>A | rs1135822 | Phe120Ile | |
*69 | 100C>T | rs1065852 | Pro34Ser |
2850C>T | rs16947 | Arg296Cys | |
2988G>A | rs38371725 | Splicing defect | |
ADRB 1 Ser49Gly | A>G | rs1801252 | Ser49Gly |
ADRB 1 Gly389Arg | G>C | rs1801253 | Gly389Arg |