Genetic variation in SPAG16 regions encoding the WD40 repeats is not associated with reduced sperm motility and axonemal defects in a population of infertile males

Table 2 SPAG16 SNP 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.

ISSN: 1471-2490