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首頁(yè) /診斷試劑 /遺傳性基因標(biāo)準(zhǔn)品 /地中海貧血 /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

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產(chǎn)品描述
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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
Purofication 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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