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首頁 /診斷試劑 /遺傳性基因標準品 /家族性高膽固醇血癥(FH) /SS-Integration??APOB p.R3527W Reference?Standard

SS-Integration??APOB p.R3527W Reference?Standard

CBPT0007

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產品描述
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Introduction 
Format Genomic DNA
Description APOB (Apolipoprotein B) is a Protein Coding gene. Diseases associated with APOB include Hypobetalipoproteinemia, Familial, 1 and Hypercholesterolemia, Familial, 2. Among its related pathways are Plasma lipoprotein assembly, remodeling, and clearance and Binding and Uptake of Ligands by Scavenger Receptors.
   
Technical Data 
DNA Change c.10579C>T
AA Change p.R3527W
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 45.7% (DDPCR)
Transcript ENST00000233242.1
Cosmic ID COSM2716031
Chr position(GRCh37) chr2:21229161
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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