comments added: Csc47 13:03, 22 November 2011 (PST) (deleted item)
This item APOE4 SNP on assembly hg18 at chr19:50103918-50103919 has been deleted from the wiki track
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