GenomeAnnotation:hg18-10221

hg18 chr19:50,103,919-50,103,919  'APOE4 SNP'  created: Csc47 18:48, 20 October 2010 (UTC)

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