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基因检测标准品 > 地中海贫血标准品 > CBPD0010β-thalassemia mutation Reference Standard Ⅹ

β-thalassemia mutation Reference Standard Ⅹ
名称 β-thalassemia mutation Reference Standard Ⅹ
型号 CBPD0010
报价
特点 β-thalassemia mutation Reference Standard Ⅹ
  • 详细内容
CBPD0010
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: 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
Mutation2Variation site: IVS-II-745(C>G)
DNA Change: c.316-106C>G
Zygosity: Heterozygous
Allelic Frequency: 50%
Chr position(GRCh37): Chr11:5247062G>C
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 Ⅹ

Figure 1. IVS-I-6(T>C) Heterozygous

β-thalassemia mutation Reference Standard Ⅹ

Figure 2. IVS-II-745(C>G) Heterozygous

Storage4℃
Expiry36 months from the date of manufacture


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