PMID: 31480784

Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 are Associated with Serum Lipid Profile in Chinese Han Population.

International journal of environmental research and public health
Z Li, T Zhao, X Tan, S Lei, L Huang, L Yang
2019-09-02

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-81301694-A-T BCO1 c.801A>T p.Arg267Ser Missense 6/11 -
11-128708009-G-A KCNJ1 c.*1011C>T - 3-UTRSNV 2/2 -
16-56933519-G-A SLC12A3 c.2738G>A p.Arg913Gln Missense 23/26 -
16-81301694-A-G BCO1 c.801A>G p.Arg267Arg Synonymous 6/11 -
1-55529828-C-T PCSK9 c.*571C>T - 3-UTRSNV 12/12 -
19-11224181-C-A LDLR c.1359-30C>A - IntronicSNV - 9/17
19-11241915-A-G LDLR c.2548-42A>G - IntronicSNV - 17/17
19-11224181-C-T LDLR c.1359-30C>T - IntronicSNV - 9/17
11-128707975-G-C KCNJ1 c.*1045C>G - 3-UTRSNV 2/2 -
19-11242765-A-G LDLR c.*773A>G - 3-UTRSNV 18/18 -