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. Author manuscript; available in PMC: 2009 Nov 25.
Published in final edited form as: Pharmacogenomics J. 2008 Jul 29;8(5):349–356. doi: 10.1038/tpj.2008.9

Table 1.

Description of 11 polymorphic markers studied in the CYP2E1 gene.

Marker Function Polymorphism dbSNP rs# Site Location Positiond (bp) Base pairs to next SNP ALFRED UIDa ADeles Ancestral allele
1 none proven VNTR 5′ upstream 135,188,828 885b SI01 40900 4 alleles NAc
2 C_2431875_10;Pstl rs3813867 5′ upstream 135,189,595 240 SI000693S G/G G
3 Rsal rs2031920 5′ upstream 135,189,835 703 S1000694T C/T C
4 C_15867697_1D rs2070672 5′ upstream 135,190,538 281 SI001473P G/A A
5 C_25594209_10 rs641342Q 5′ upstream 135,190,819 4,846 SI001475R T/G G
6 Val179lle C_30443971_10 rs6413419 exon 4 135,195,665 1,722 SI001468T G/A G
7 lle321lle C_7468401_10 rs915909 exon 6 135,197,387 330 SI001476S T/C C
8 C_30173803_10; Mspl rs4646976 intron 6 135,197,717 817 SI000692R A/G A
9 Dral rs6413432 intron 6 135,198,534 2,593 SI014089W SI014088V A/T A
10 C_16026001_20 rs2070676 intron 7 135,201,127 225 GIC G
11 Phe421Phe C_16026002_10 rs2515641 exon 8 135,201,352 SI000174Q TC C

VNTR has two common (6-, 8-repeats described by Hu el al.1999) alleles; two rare alleles observed in African samples.

a

“UIDs” are unique identifiers in the ALFRED database for polymorphism descriptions and allele frequencies.

b

Distance to next SNP (bp) from the proximal end of the VNTR

c

Not Available; Failed to identify ancestral allele for VNTR

d

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