SNPa cDNA Genomic Position | Sequence Context 5′>3′ (wt) | Protein | Allelesb | Frequency |
---|---|---|---|---|
n/total | % | |||
c.62A>T (e 1) | CTCCTGGTTCaGCGCCACCCT | Q21L | 2/510 | 0.4 |
g.62A>T | ||||
c.136A>G (e 1) | CTTCTGCAGaTGGATAGAA | M46V | 3/510 | 0.6 |
g.136A>G | ||||
c.172-100G>A (i 1) | GGATGTTGGGgAGGGGCTAAT | 1/500 | 0.2 | |
g.12.596G>A | ||||
c.296G>A (e 2) | TCTGGCCGGGgAAAAATCGCC | G99E | 1/498 | 0.2 |
g.12.820G>A | ||||
c.334+59A>T (i 2) | GAAGGGAGTaTATGGGAGG | 52/488 | 10.7 | |
g.12.917A>T | ||||
c.415A>G (e 3) | GGGATGGGAaAGCGGAGTG | K139E | 4/496 | 0.8 |
g.13.072A>G | ||||
c.419G>A (e 3) | ATGGGAAAGCgGAGTGTGGAG | R140Q | 1/496 | 0.2 |
g.13.076G>A | ||||
c.484+91G>A (i 3) | GGTATATAAGgGCACAGACAG | 1/496 | 0.2 | |
g.13.232G>A | ||||
c.485-18C>T (i 3) | TGTCCTTGAcCTGCTGCTT | 41/110 | 37.3 | |
g.15.582C>T | ||||
c.646-17C>T (i 4) | ACCTCACCAcCCCTTCTTT | 2/504 | 0.4 | |
g.17.897C>T | ||||
c.822+183G>A (i 5) | GTGAAAGGAgGGAGAAAAT | 164/496 | 33.1 | |
g.18.273G>A | ||||
c.823-85G>A (i 5) | TAGGCCAACgGAGGGCAGC | 4/100 | 4 | |
g.18.604G>A | ||||
c.1152+23A>G (i 7) | GAACCCCATaGCCCTCCTG | 6/108 | 5.6 | |
g.21.203A>G | ||||
c.1153-6C>T (i 7) | GTGATCCTCcCTCAGGACA | 1/506 | 2 | |
g.21.363C>T | ||||
c.1172T>A (e 8) | TATTTCTCAtCCTGAGCAC | I391N | 5/504 | 1 |
g.21.388T>A | ||||
c.1294+53C>T (i 8) | GTACTATCCcCAACTTGA | 131/500 | 26.2 | |
g.21.563C>T | ||||
c.1294+153A>G (i 8) | TACAACCCTaTAAGGAGGC | 5/500 | 1 | |
g.21.663A>G | ||||
c.1294+177T>G (i 8) | AAGAAGATtACATTCCC | 5/500 | 1 | |
g.21.687T>G | ||||
c.1295-100A>G (i 8)c | CTTATGCAAaTCTGTTGCA | 6/106 | 5.7 | |
g.25.241A>G | ||||
c.1476+26G>A (3′UTR) | GGGTCAAAGgATTCCAGGG | 2/110 | 1.8 | |
g.25.548G>A |
|
|
|
|
↵ a Position based on cDNA numbering (Yamano et al., 1989) and genomic DNA (CYPallele nomenclature website).
↵ b Number (n) of observations/total number of successfully sequenced alleles.
↵ c Identical to NCBI SNP ID rs3211368.