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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) /SS-Integration? LDLR p.H583Y Reference Standard

SS-Integration? LDLR p.H583Y Reference Standard

CBPT0008

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產(chǎn)品描述
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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 c.1747C>T
AA Change p.H583Y
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 25.4% (DDPCR)
Transcript ENST00000558518.1
Cosmic ID COSM5581534
Chr position(GRCh37) chr19:11227576
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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藥靶模型聯(lián)系方式: 華東銷(xiāo)售經(jīng)理(上海):18240630236 華東銷(xiāo)售經(jīng)理(上海、江蘇、安徽):15715191010 華北銷(xiāo)售經(jīng)理:18628311252 華南銷(xiāo)售經(jīng)理:13823536064 華中&華西銷(xiāo)售經(jīng)理:18071545918 華中&西南銷(xiāo)售經(jīng)理:13871580511 全國(guó)銷(xiāo)售經(jīng)理:13816461235
診斷標(biāo)準(zhǔn)品聯(lián)系方式: 華東銷(xiāo)售經(jīng)理:15000320447 華北銷(xiāo)售經(jīng)理:18628311252 華南銷(xiāo)售經(jīng)理:13823536064 華中&華西銷(xiāo)售經(jīng)理:18071545918 華中&西南銷(xiāo)售經(jīng)理:13871580511 全國(guó)銷(xiāo)售經(jīng)理:13816461235

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