首页 /诊断试剂 /遗传性基因标准品 /家族性高胆固醇血症(FH) /SS-Integration™ LDLRAP1 p.W22* Reference Standard

SS-Integration™ LDLRAP1 p.W22* Reference Standard

CBPT0005

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Introduction 
Format Genomic DNA
Description LDLRAP1 (Low Density Lipoprotein Receptor Adaptor Protein 1) is a Protein Coding gene. Diseases associated with LDLRAP1 include Hypercholesterolemia, Familial, 4 and Familial Hypercholesterolemia. Among its related pathways are Plasma lipoprotein assembly, remodeling, and clearance and Vesicle-mediated transport.
   
Technical Data 
DNA Change c.65G>A
AA Change p.W22*
Mutation type Substitution - Nonsense
Zygosity Heterozygous
Allelic Frequency N/A
Transcript ENST00000374338.4
Cosmic ID N/A
Chr position(GRCh37) chr1:25870254
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
Storage 2-8℃
Expiry 36 months from the date of manufacture
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