royal皇家88(中国)

    royal皇家88(中国) /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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    产品描述
    产品数据库
    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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