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首頁 /診斷試劑 /遺傳性基因標準品 /地中海貧血 /β-thalassemia IVS-II-654(C>T)&IVS-II-654(C>T) double mutation Reference Standard

β-thalassemia IVS-II-654(C>T)&IVS-II-654(C>T) double mutation Reference Standard

CBPD0007

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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: CD71-72(+A)
DNA Change: c.216_217insA
Zygosity: Heterozygous
Allelic Frequency: 50%
Chr position(GRCh37): Chr11:5247905_5247906 insA
Transcript: NM_000518.5
Mutation 2 Variation site: IVS-II-654(C>T)
DNA Change: c.316-197C>T
Zygosity: Heterozygous
Allelic Frequency: 50%
Chr position(GRCh37): Chr11:5247153C>T
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. Codon 71/72(+A) Heterozygous

Figure 2. IVS-II-654(C>T) Heterozygous

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

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