GenomeAnnotation:hg18-10221: Difference between revisions

From genomewiki
Jump to navigationJump to search
No edit summary
mNo edit summary
 
(One intermediate revision by the same user not shown)
Line 1: Line 1:
''comments added: [[User:Csc47|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
<BR>
[[Category:Genome Annotation]]
[[Category:Genome Annotation]]
[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)''
[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>'APOE2 SNP'</B>&nbsp;&nbsp;''created: [[User:Csc47|Csc47]] 18:48, 20 October 2010 (UTC)''


The T allele of this SNP (rs7412) defines the APOE2 allele.   
The T allele of this SNP (rs7412) defines the APOE2 allele.   

Latest revision as of 21:03, 22 November 2011

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


hg18 chr19:50,103,919-50,103,919  'APOE2 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