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    kdpay钱包(中国) /诊断试剂 /遗传性基因标准品 /地中海贫血 /β-thalassemia IVS-I-1(G>A)&IVS-I-6(T>C) double mutation Reference Standard

    β-thalassemia IVS-I-1(G>A)&IVS-I-6(T>C) double mutation Reference Standard

    CBPD0009

    询 价
    索取COA
    产品描述
    产品数据库
    Introduction
    Format Genomic DNA
    Description β-thalassemia (β-mediterraneananemia) refers to the A group of hemoglobinopathies in which synthesis is partially or completely inhibited.
       
    Technical Data 
    Mutation 1 Variation site: IVS-I-1(G>A)
    DNA Change: c.92+1G>A
    Zygosity: Heterozygous
    Allelic Frequency: 50%
    Chr position(GRCh37): Chr11:5248159C>T
    Transcript: NM_000518.5
    Mutation 2 Variation site: IVS-I-6(T>C)
    DNA Change: c.92+6T>C
    Zygosity: Heterozygous
    Allelic Frequency: 50%
    Chr position(GRCh37): Chr11:5248154A>G
      Transcript: NM_000518.5
    Buffer Tris-EDTA
       
    Product Information 
    Intended Use Research Use Only
    Unit Size 1ug
    Concentration Download for COA
    Purity Download for COA
    DNA electrophoresis Download for COA

    Sanger sequencing

    Figure 1. IVS-I-1(G>A) Heterozygous

    Figure 2. IVS-I-6(T>C) Heterozygous

    Storage 2-8℃
    Expiry 36 months from the date of manufacture

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