PMID: 15814460

Doring F, Rimbach G, Lodge JK
In silico search for single nucleotide polymorphisms in genes important in vitamin E homeostasis.
IUBMB Life. 2004 Oct;56(10):615-20., [PubMed]
Sentences
No. Mutations Sentence Comment
74 ABCC2 p.Gln122Arg
X
ABCC2 p.Gln122Arg 15814460:74:583
status: NEW
view ABCC2 p.Gln122Arg details
 In addition, identified non-synonymous SNPs of TTPA (W3E), and CYP3A5 (T495R) Table 1 SNP frequencies and non-synonymous SNPs in candidate genes involved in vitamin E homeostasis gene geneID chromosome exonsa ASb bp/cSNPc cSNPd non-synonymous SNP [heterozygosity]e LPL 4032 8p22 10 476 119 12 T427A [0.03] TTPA 7274 8q13.1-q13.3 6 279 837 1 none (W3Ef ) TAP 23541 22q12.2 12 407 610 2 K11R [0.475] MRP2 1244 10q24 32 1546 122 38 P39Y [0.01], G333D [0.01], E495K [0.01], R849L [0.01], L1181D [0.07], E1188V [0.1] PXR 8856 3q12-q13.3 9 435 118 11 T12A [0.1], S27P [0.05], R36G [0.07], Q122R [0.01] CYP3A5 1577 7q21.1 13 503 503 3 none (T495Rf ) CYP3A4 1576 7q21.1 13 504 101 15 E96K [0.003], Q162R [0.02], H174D [0.02] CYP4F2 8529 19p13.11 12 521 82 19 G12W [0.268], D269A [0.288] a number of exons. Login to comment