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基因檢測標(biāo)準(zhǔn)品 > 地中海貧血標(biāo)準(zhǔn)品 > CBPD0009β-thalassemia mutation Reference Standard Ⅸ

β-thalassemia mutation Reference Standard Ⅸ
名稱 β-thalassemia mutation Reference Standard Ⅸ
型號 CBPD0009
報價
特點 β-thalassemia mutation Reference Standard Ⅸ
  • 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: 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 2Variation 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
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 Ⅸ

Figure 1. IVS-I-1(G>A) Heterozygous

β-thalassemia mutation Reference Standard ⅨFigure 2. IVS-I-6(T>C) Heterozygous

Storage4℃
Expiry36 months from the date of manufacture


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