GenomeAnnotation:hg18-10221: Difference between revisions

Revision as of 20:56, 22 November 2011

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.

@@ Line 2: / Line 2: @@
 [http://genome.cse.ucsc.edu/cgi-bin/hgTracks?db=hg18&wikiTrack=pack&position=chr19:50103919-50103919 hg18 chr19:50,103,919-50,103,919]&nbsp;&nbsp;<B>'APOE4 SNP'</B>&nbsp;&nbsp;''created: [[User:Csc47|Csc47]] 18:48, 20 October 2010 (UTC)''
-This SNP (rs7412) defines the APOE4 allele
+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.