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首頁 /診斷試劑 /遺傳性基因標(biāo)準(zhǔn)品 /家族性高膽固醇血癥(FH) /PCSK9 c.1120G>T Reference Standard

PCSK9 c.1120G>T Reference Standard

CBPT0003

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Introduction 
Format Genomic DNA
Description PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) is a Protein Coding gene. Diseases associated with PCSK9 include Hypercholesterolemia, Familial, 3 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Plasma lipoprotein assembly, remodeling, and clearance and Cholesterol metabolism.
   
Technical Data 
DNA Change NM_174936.4:c.1120G>T
AA Change p.D374Y
Zygosity Heterozygous
Allelic Frequency 50%
Chr position(GRCh37) Chr1: 55523127G>T
Buffer Tris-EDTA
   
Product Information 
Intended Use Research Use Only
Unit Size 1ug
Concentration Download for COA
Purofication Download for COA
DNA electrophoresis Download for COA
Sanger sequencing Download for COA 
Storage 2-8
Expiry 36 months from the date of manufacture

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