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. 2006 May 18;7:29. doi: 10.1186/1471-2156-7-29

Table 3.

Ten selected genetic variations for CYP7A1 genotyping.

SNP Allele 1/2 Position Note
rs10504255 A/G 3'-downstream HapMap htSNP in CEU
rs8192879 C/T 3'-UTR HapMap htSNP in CEU, JPT, and YRI
1302 delTT TT/-- Exon 6 Frameshift, CYP7A1 deficiency, high hepatic cholesterol content
rs11786580 C/T Intron 4 HapMap htSNP in CEU, JPT, and YRI
rs8192874 C/T Exon 3 Non-synonymous SNP, Asn33Ser
rs216245953 A/G Intron 1 HapMap htSNP in JPT
rs3808607 T/G Promoter HapMap htSNP in CEU and JPT
rs7833904 T/A 5-upstream HapMap htSNP in YRI
rs1125226 A/C 5-upstream HapMap htSNP in JPT
rs1023652 C/G 5'-upstream HapMap htSNP in CEU