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首頁(yè) /診斷試劑 /遺傳性基因標(biāo)準(zhǔn)品 /家族性高膽固醇血癥(FH) /LDLR p.A627T Reference Standard

LDLR p.A627T Reference Standard

CBPT0001

產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
Introduction 
Format Genomic DNA
Description LDLR (Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with LDLR include Hypercholesterolemia, Familial, 1 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Familial hyperlipidemia type 1 and Statin inhibition of cholesterol production.
   
Technical Data 
DNA Change NM_000527.5: c.1879G>A
AA Change p.A627T
Zygosity Heterozygous
Allelic Frequency 50%
Chr position(GRCh37) Chr19: 11230801G>A
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
DdPCR Results
Storage 2-8
Expiry 36 months from the date of manufacture

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