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基因檢測(cè)標(biāo)準(zhǔn)品 > 地中海貧血標(biāo)準(zhǔn)品 > CBPD0007β-thalassemia mutation Reference Standard Ⅶ

β-thalassemia mutation Reference Standard Ⅶ
名稱(chēng) β-thalassemia mutation Reference Standard Ⅶ
型號(hào) CBPD0007
報(bào)價(jià)
特點(diǎn) β-thalassemia mutation Reference Standard Ⅶ
  • 詳細(xì)內(nèi)容
Introduction
FormatGenomic DNA
Descriptionβ-thalassemia (β-mediterraneananemia) refers to the A group of hemoglobinopathies in which synthesis is partially or completely inhibited.
  
Technical Data 
Mutation 1Variation 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 2Variation 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
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

β-thalassemia mutation Reference Standard Ⅶ

Figure 1. Codon 71/72(+A) Heterozygous

β-thalassemia mutation Reference Standard Ⅶ

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

Storage4℃
Expiry36 months from the date of manufacture


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