| 名稱(chēng) | β-thalassemia mutation Reference Standard Ⅴ |
| 型號(hào) | CBPD0005 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | β-thalassemia mutation Reference Standard Ⅴ |
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電話(huà)：4008750250
號(hào)碼：
手機(jī)：18066071954
地址：南京市棲霞區(qū)緯地路9號(hào)
Email： zhangxiangwen@cobioer.com
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基因檢測(cè)標(biāo)準(zhǔn)品 > 地中海貧血標(biāo)準(zhǔn)品 > CBPD0005β-thalassemia mutation Reference Standard Ⅴ
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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 |
Figure 1. Codon 39(C>T) Heterozygous
Figure 2. IVS-II-1(G>A) Heterozygous |
| Storage | 4℃ |
| Expiry | 36 months from the date of manufacture |
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