首页 /诊断试剂 /遗传性基因标准品 /地中海贫血 /β-thalassemia Codon 26(GAG>AAG)&IVS-I-1 (G>T) double mutation Reference Standard

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

CBPD0008

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Introduction
Format Genomic DNA
Description β-thalassemia (β-mediterraneananemia) refers to the A group of hemoglobinopathies in which synthesis is partially or completely inhibited.
   
Technical Data 
Mutation 1 Variation 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
Buffer Tris-EDTA
   
Product Information 
Intended Use Research Use Only
Unit Size 1ug
Concentration Download for COA
Purofication Download for COA
DNA electrophoresis Download for COA
Sanger sequencing

Figure 1. Codon 26(GAG>AAG) Heterozygous

Figure 2. IVS-I-1 (G>T) Heterozygous

Storage 2-8℃
Expiry 36 months from the date of manufacture

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