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


Nakamoto et al. BMC Genetics 2006 7:29   doi:10.1186/1471-2156-7-29

Open Data