Table 2

SPAG16SNP distributions in sample population
rs2042791 rs2042792 rs12623569 rs16851495
mRNA A1175C C [exon 11 3 + 15]G A1366C G [exon 14 3 +25] A
Protein Q361h - K425T -
Homozygous Major allele 19 26 29 43
Heterozygous 33 28 25 17
Homozygous Minor allele 8 6 6 0
Sample population Minor allele frequency .408 .333 .308 .142
HapMap Minor allele frequency .39 .39 .30 .08

SNPs rs2042792 and rs16851495 are located in non-coding exon splice regions, while SNPs rs2042791 and rs12623569 are in coding regions of SPAG16 mRNA, and alter amino acid translation. The nucleic acid and amino acid positions indicated refer, respectively, to mRNA GenBank:NM_024532.3 and to protein GenBank:NP_078808.3. Expected frequencies refer to the HapMap CEU (European) study [26].

The sequenced region area also covered the following SNPs, for which no minor alleles were found in the sample population: rs10167688, rs115473269, rs61752199, rs2248214, rs28606463, rs114135655, rs113852644, rs117619722, rs6746741, rs71855401, rs12988372, rs12988374, rs80016542. Location and expected frequencies for SNPs not present in the sample population are given in Additional file 1: Table S1.

Major and minor allele representation in the sample population.

Nagarkatti-Gude et al.

Nagarkatti-Gude et al. BMC Urology 2012 12:27   doi:10.1186/1471-2490-12-27

Open Data