PMID: 15081120

Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.

Genomics
M Olivier, X Wang, R Cole, B Gau, J Kim, EM Rubin, LA Pennacchio
2004-05

42 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-116724204-T-C SIK3 c.3512-4205A>G - intron_variant - 20/23
11-116661826-T-C APOA5 c.162-43A>G - IntronicSNV - 3/3
11-116633825-C-A BUD13 c.480G>T p.Pro160Pro Synonymous 4/10 -
11-116633825-C-T BUD13 c.480G>A p.Pro160Pro Synonymous 4/10 -
11-116694005-C-T APOA4 c.1-98G>A - 5-UTRSNV 1/3 -
11-116661524-C-A APOA5 c.421G>T p.Ala141Ser Missense 4/4 -
11-116622723-G-C BUD13 c.1767-3432C>G - IntronicSNV - 9/9
11-116622723-G-A BUD13 c.1767-3432C>T - IntronicSNV - 9/9
11-116706952-C-G APOA1 c.376G>C p.Asp126His Missense 4/4 -
11-116625332-T-C BUD13 c.1766+2530A>G - IntronicSNV - 9/9
11-116691675-T-C APOA4 c.1099A>G p.Thr367Ala Missense 3/3 -
11-116706936-T-A APOA1 c.392A>T p.Lys131Met Missense 4/4 -
11-116691675-T-A APOA4 c.1099A>T p.Thr367Ser Missense 3/3 -
11-116708523-C-G APOA1 c.-223G>C - 5_prime_UTR_variant 1/4 -
11-116635784-A-G BUD13 c.322+294T>C - IntronicSNV - 3/9
11-116661488-C-T APOA5 c.457G>A p.Val153Met Missense 4/4 -
11-116622958-G-A BUD13 c.1767-3667C>T - IntronicSNV - 9/9
11-116706777-C-A APOA1 c.551G>T p.Arg184Leu Missense 4/4 -
11-116651463-T-G ZPR1 c.1180-910A>C - IntronicSNV - 12/13
11-116723171-T-C SIK3 c.3512-3172A>G - intron_variant - 20/23
11-116660813-G-A APOA5 c.*31C>T - 3-UTRSNV 4/4 -
11-116702778-C-A APOC3 c.180-702C>A - IntronicSNV - 3/3
11-116642137-C-T BUD13 c.144-1199G>A - IntronicSNV - 1/9
11-116662785-G-A APOA5 c.1-209C>T - IntronicSNV - 1/3
11-116645149-A-G ZPR1 c.*4492T>C - IntergenicSNV 14/14 -
11-116620693-C-T BUD13 c.1767-1402G>A - IntronicSNV - 9/9
11-116654435-C-T ZPR1 c.892-100G>A - IntronicSNV - 9/13
11-116651463-T-A ZPR1 c.1180-910A>T - IntronicSNV - 12/13
11-116706777-C-G APOA1 c.551G>C p.Arg184Pro Missense 4/4 -
11-116720089-T-C SIK3 c.3512-90A>G - intron_variant - 20/23
11-116649511-G-A ZPR1 c.*130C>T - 3-UTRSNV 14/14 -
11-116702778-C-T APOC3 c.180-702C>T - IntronicSNV - 3/3
11-116691634-C-A APOA4 c.1140G>T p.Gln380His Missense 3/3 -
11-116628401-T-C BUD13 c.1684+81A>G - IntronicSNV - 8/9
11-116661392-C-A APOA5 c.553G>T p.Gly185Cys Missense 4/4 -
11-116725303-G-C SIK3 c.3511+3223C>G - intron_variant - 20/23
11-116661392-C-T APOA5 c.553G>A p.Gly185Ser Missense 4/4 -
11-116639692-C-T BUD13 c.237+1153G>A - IntronicSNV - 2/9
11-116630600-C-T BUD13 c.1255-705G>A - IntronicSNV - 5/9
11-116724232-C-T SIK3 c.3512-4233G>A - intron_variant - 20/23
11-116717663-T-C SIK3 c.3809-394A>G - intron_variant - 22/23
11-116692334-C-T APOA4 c.440G>A p.Ser147Asn Missense 3/3 -