| 名稱 | β-thalassemia mutation Reference Standard Ⅶ |
| 型號(hào) | CBPD0007 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | β-thalassemia mutation Reference Standard Ⅶ |
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電話：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 > CBPD0007β-thalassemia mutation Reference Standard Ⅶ
- 詳細(xì)內(nèi)容
| 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: CD71-72(+A) |
| DNA Change: c.216_217insA | |
| Zygosity: Heterozygous | |
| Allelic Frequency: 50% | |
| Chr position(GRCh37): Chr11:5247905_5247906 insA | |
| Transcript: NM_000518.5 | |
| Mutation 2 | Variation site: IVS-II-654(C>T) |
| DNA Change: c.316-197C>T | |
| Zygosity: Heterozygous | |
| Allelic Frequency: 50% | |
| Chr position(GRCh37): Chr11:5247153C>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 71/72(+A) Heterozygous
Figure 2. IVS-II-654(C>T) Heterozygous |
| Storage | 4℃ |
| Expiry | 36 months from the date of manufacture |
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