ABCC2 p.Ala1450Ser
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PMID: 22565165
[PubMed]
Grover S et al: "Genetic association analysis of transporters identifies ABCC2 loci for seizure control in women with epilepsy on first-line antiepileptic drugs."
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Of all the blocks, block 1 (rs1885301-rs2804402) in the promoter region and Table 2 (continued) N dbSNP ida Positionb Allelesc Gene location (effect) Function MAF 33 rs3758395 chr10:101602004 c.3741 + 154T > C Intron 26 0.190 34 rs17216177 chr10:101603522 c.3742 - 34T > C Intron 26 0.000 35 rs3740066 chr10:101604207 c.3972C > T Exon 28 (Ile1324Ile) m Expression [haplotype containing (- 24C)-1249A- 3972C] [36] k Expression [haplotype containing (- 24C)- 1249G- 3972T, (-24T)-1249G- 3972C or (-24T)-1249G- 3972T] [36] k Clearance of irinotecan (ABCC2*2 containing C allele) [34] 0.327 36 rs72558202 chr10:101605538 c.4145A > G Exon 29 (Gln1382Arg) 0.000 37 rs3740065 chr10:101605693 c.4146 + 154A > G Intron 29 0.211 38 rs56296335 chr10:101610393 c.4348G > C Exon 31 (Ala1450Ser) k Activity, kexpression and impaired membrane localization [40] 0.000 39 rs3740063 chr10:101610723 c.4508 + 170T > C Intron 31 0.345 40 rs8187710 chr10:101611294 c.4544G > A Exon 32 (Cys1515Tyr) m Expression [41] 0.017 452 Pharmacogenetics and Genomics 2012, Vol 22 No 6 block 2 (rs4919395-rs2756104-rs4148385-rs2180990- rs35191126) spanning introns 1 and 2, separated by a 1.5 kb region, were smaller spanning .5 and 6 kb regions, respectively.
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ABCC2 p.Ala1450Ser 22565165:116:770
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