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基因检测标准品 > 地中海贫血标准品 > CBPD0001β-thalassemia mutation Reference Standard Ⅰ

β-thalassemia mutation Reference Standard Ⅰ
名称 β-thalassemia mutation Reference Standard Ⅰ
型号 CBPD0001
报价
特点 β-thalassemia mutation Reference Standard Ⅰ
  • 详细内容
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: Codon 39(C>T)
DNA Change: c.118C>T
Zygosity: Heterozygous
Allelic Frequency: 50%
Chr position(GRCh37): Chr11:5248004G>A
Transcript: NM_000518.5
Mutation 2Variation site: IVS-I-110(G>A)
DNA Change: c.93-21G>A
Zygosity: Heterozygous
Allelic Frequency: 50%
Chr position(GRCh37): Chr11:5248050C>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 Ⅰ

Figure 1. Codon 39(C>T) Heterozygous

β-thalassemia mutation Reference Standard Ⅰ

Figure 2. IVS-I-110(G>A) Heterozygous

Storage4℃
Expiry36 months from the date of manufacture


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