β-thalassemia Codon 26(GAG>AAG)&IVS-I-1 (G>T) double mutation Reference Standard
CBPD0008
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Introduction
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| 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 | |
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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 |
