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基因檢測標(biāo)準(zhǔn)品 > 地中海貧血標(biāo)準(zhǔn)品 > CBPD0008β-thalassemia Codon 26(GAG>AAG)&IVS-I-1 (G&

β-thalassemia Codon 26(GAG>AAG)&IVS-I-1 (G&
名稱 β-thalassemia Codon 26(GAG>AAG)&IVS-I-1 (G&
型號 CBPD0008
報價
特點(diǎn) β-thalassemia Codon 26(GAG>AAG)&IVS-I-1 (G>T) double mutation Reference Standard
  • 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: Codon 26(GAG>AAG)
DNA Change: c.79G>A
Zygosity: Heterozygous
Allelic Frequency: 50%
Chr position(GRCh37): chr11:5248173G>A
Transcript: NM_000518.5


Mutation 2

Variation site: IVS-I-1 (G>T)
DNA Change: c.92+1G>T
Zygosity: Heterozygous
Allelic Frequency: 50%
Chr position(GRCh37): chr11:5248159G>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 Codon 26(GAG>AAG)&IVS-I-1 (G>T) double mutation Reference Standard

Figure 1. Codon 26(GAG>AAG) Heterozygous

β-thalassemia Codon 26(GAG>AAG)&IVS-I-1 (G>T) double mutation Reference Standard

Figure 2. IVS-I-1 (G>T) Heterozygous

Storage4℃
Expiry36 months from the date of manufacture



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