PMID: 26744084

Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.

Scientific reports
T Guo, RX Yin, F Huang, LM Yao, WX Lin, SL Pan
2016-01-08

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
1-230294715-C-T GALNT2 c.127-19249C>T - IntronicSNV - 1/15
1-230326412-G-A GALNT2 c.220+12355G>A - IntronicSNV - 2/15
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
1-55526428-T-G PCSK9 c.1682-620T>G - IntronicSNV - 10/11
1-55526428-T-C PCSK9 c.1682-620T>C - IntronicSNV - 10/11
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-62996838-C-G DOCK7 c.3519-1721G>C - IntronicSNV - 28/48
1-62996838-C-T DOCK7 c.3519-1721G>A - IntronicSNV - 28/48
1-230283764-G-A GALNT2 c.127-30200G>A - IntronicSNV - 1/15
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
11-10328298-G-A ADM c.*110G>A - 3-UTRSNV 4/4 -
1-55526296-A-G PCSK9 c.1682-752A>G - IntronicSNV - 10/11
1-55526296-A-C PCSK9 c.1682-752A>C - IntronicSNV - 10/11
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
1-62950858-C-T DOCK7 c.5415+2211G>A - IntronicSNV - 42/48
1-230237103-A-G GALNT2 c.126+33950A>G - IntronicSNV - 1/15
1-230294715-C-A GALNT2 c.127-19249C>A - IntronicSNV - 1/15