β-thalassemia Codon 39(C>T)&IVS-II-1(G>A) double mutation Reference Standard
CBPD0005
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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 39(C>T) |
| DNA Change: c.118C>T | |
| Zygosity: Heterozygous | |
| Allelic Frequency: 50% | |
| Chr position(GRCh37): Chr11:5248004G>A | |
| Transcript: NM_000518.5 | |
| Mutation 2 | Variation site: IVS-II-1(G>A) |
| DNA Change: c.315+1G>A | |
| Zygosity: Heterozygous | |
| Allelic Frequency: 50% | |
| Chr position(GRCh37): Chr11:5247806C>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 |
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| Storage | 4℃ |
| Expiry | 36 months from the date of manufacture |
