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.
“UIDs” are unique identifiers in the ALFRED database for polymorphism descriptions and allele frequencies.
Distance to next SNP (bp) from the proximal end of the VNTR
Not Available; Failed to identify ancestral allele for VNTR
NCBI Map Build 36.3