Table 1.
CD33 SNPs identified by sequencing and genotyped in the present study.
CD33 SNP | rs# | Location | Allele Frequency | Flanking sequence |
---|---|---|---|---|
Leu10Leu | rs117255828 | Exon 1 | T=0.02 | GCTGCCCCTG-C-TGTGGGCAGG |
Ala14Val | rs12459419 | Exon 2 | T=0.31 | CCCACAGGGG-C-CCTGGCTATG |
Arg62Glu | Exon 2 | A=0.005 | TACTGGTTCC-G-GGAAGGAGCC | |
Ala65Pro | Exon 2 | C=0.005 | CCGGGAAGGA-G-CCATTATATC | |
Arg69Gly | rs2455069 | Exon 2 | G=0.4 | CCATTATATCC-A-GGGACTCTCC |
Phe243Leu | rs11882250 | Exon 4 | C=0.01 | AACTGGTATC-T-TTCCAGGAGA |
Val267Ile | rs58981829 | Exon 5 | A=0.02 | AGGAGCTGGT-G-TTACAGCCCT |
Arg304Gly | rs35112940 | Exon 6 | A=0.13 | CCCTACCACA-G-GGTCAGCCTC |
Ser305Pro | rs61736475 | Exon 6 | C=0.04 | TACCACAGGG-T-CAGCCTCCCC |
Ala331Thr | rs35632246 | Exon 7 | G=0.004 | TGCCGCCCCT-A-CTGTGGAGAT |
intron 6 | rs273621 | Intron 6 (Splice site) | C=0.01 | GCCTCCCCGG-T-GAGTGATGGG |
3′UTR | rs1803254 | 3′UTR | C=0.22 | CATTTGCTAA-G-TGTATGATGT |
SNPs in bold occur with minimum allele frequency (MAF) of more than 0.1 were selected for genotyping.