GenomeAnnotation:hg18-10222: Difference between revisions
m (New page: Category:Genome Annotation [http://genome.cse.ucsc.edu/cgi-bin/hgTracks?db=hg18&wikiTrack=pack&position=chr19:50103781-50103781 hg18 chr19:50,103,781-50,103,781] <B>'APOE2 S...) |
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[[Category:Genome Annotation]] | [[Category:Genome Annotation]] | ||
[http://genome.cse.ucsc.edu/cgi-bin/hgTracks?db=hg18&wikiTrack=pack&position=chr19:50103781-50103781 hg18 chr19:50,103,781-50,103,781] <B>' | [http://genome.cse.ucsc.edu/cgi-bin/hgTracks?db=hg18&wikiTrack=pack&position=chr19:50103781-50103781 hg18 chr19:50,103,781-50,103,781] <B>'APOE4 SNP'</B> ''created: [[User:Csc47|Csc47]] 18:49, 20 October 2010 (UTC)'' | ||
rs429358 defines the APOE4 allele | The C allele of this SNP (rs429358) defines the APOE4 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 | |||
Revision as of 20:58, 22 November 2011
hg18 chr19:50,103,781-50,103,781 'APOE4 SNP' created: Csc47 18:49, 20 October 2010 (UTC)
The C allele of this SNP (rs429358) defines the APOE4 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
