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首頁(yè) /診斷試劑 /遺傳性基因標準品 /家族性高膽固醇血癥(FH) /SS-Integration? PCSK9 p.D374Y Reference Standard

SS-Integration? PCSK9 p.D374Y Reference Standard

CBPT0009

產(chǎn)品描述
產(chǎn)品數據庫
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 c.1120G>T
AA Change p.D374Y
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 26.2% (DDPCR)
Transcript ENST00000302118.5
Cosmic ID N/A
Chr position(GRCh37) chr1:55523127
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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