GenomeAnnotation:hg18-10627: Difference between revisions
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Latest revision as of 21:04, 22 November 2011
hg18 chr19:50,103,919-50,103,919 'APOE2' created: Csc47 13:04, 22 November 2011 (PST)
The T allele of this SNP (rs7412) defines the APOE2 allele. Rall et al defined the E2/3/4 system on the basis of Cys/Arg polymorphisms at positions 112 and 158 in APOE. APOE2 = 112Cys / 158Cys = rs429358T / rs7412T APOE3 = 112Cys / 158Arg = rs429358T / rs7412C APOE4 = 112Arg / 158Arg = rs429358C / rs7412C rs7412 defines the 158Cys/Arg polymorphism as shown below: NM_000041: missense Arg (CGC) --> Cys (TGC) rs429358 defines the 112Cys/Arg polymorphism: NM_000041: missense Cys (TGC) --> Arg (CGC)
Rall et al, Proc Natl Acad Sci U S A. 1982 August; 79(15): 4696�4700. p.s. Sincere apologies to anyone I led astray in my first attempt to get this annotation right. Now I'm certain. Chris
