名稱 | GJB2 p.L79Cfs*3/p.G59Afs*18 double mutation Refere |
型號 | CBPD0015 |
報價 | ![]() |
特點 | GJB2 p.L79Cfs*3/p.G59Afs*18 double mutation Reference Standard |
產(chǎn)品搜索
相關(guān)文章
- IL4藥物細(xì)胞篩選模型
- 科佰生物提前祝大家中秋快樂,闔家團圓!
- 特定細(xì)胞株的培養(yǎng)條件怎么獲取到呢?
- 【靶點模型+診斷質(zhì)控】EGFR vIII的藥物開發(fā)和診斷
- LTβR信號通路誘導(dǎo)三級淋巴結(jié)構(gòu)的形成,促進趨化因子的表達
- 雙面PD1,Blocker已成卷王,agonist賽道你上車了嗎?
- 【連載-Toll樣受體系列2】TLR7激動劑藥物細(xì)胞篩選模型
- ATCC細(xì)胞株的特殊性質(zhì)或標(biāo)志必須在整個培養(yǎng)期間始終存在
- 【靶點模型】AKT基因的藥物開發(fā)
- 【產(chǎn)品推介】GLP1藥靶模型
聯(lián)系我們
聯(lián)系人:蔣經(jīng)理
電話:4008750250
號碼:
手機:18066071954
地址:南京市棲霞區(qū)緯地路9號
Email: zhangxiangwen@cobioer.com
電話:4008750250
號碼:
手機:18066071954
地址:南京市棲霞區(qū)緯地路9號
Email: zhangxiangwen@cobioer.com
產(chǎn)品展示 / PRODUCTS
基因檢測標(biāo)準(zhǔn)品 > 遺傳性耳聾 > CBPD0015GJB2 p.L79Cfs*3/p.G59Afs*18 double mutation Refere

- 詳細(xì)內(nèi)容
CBPD0015 | |
Format | Genomic DNA |
Description | Genetic deafness is a hearing disorder caused by genetic mutations. It is mainly caused by the mutation of mutations in genetic deaf genes and is inherited to descendants. Common deaf genes include GJB2, GJB3, SLC26A4, mitochondrial 12S RRNA, etc. |
Technical Data | |
Mutation 1 | DNA Change: c.235del |
AA Change: p.L79Cfs*3 | |
Chr position(GRCh37): chr13-20763486-G- | |
Zygosity: Heterozygous | |
Allelic Frequency: 50% | |
Mutation 2 | DNA Change: c.176_191del |
AA Change: p.G59Afs*18 | |
Chr position(GRCh37): chr13-20763530-CACACGTTCTTGCAGC(16bp)- | |
Zygosity: Heterozygous | |
Allelic Frequency: 50% | |
Transcript | NM_004004.6 |
Variant Classification | Pathogenic |
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. GJB2 p.L79Cfs*3 Figure 2. GJB2 p.G59Afs*18 |
Storage | 4°C |
Expiry | 36 months from the date of manufacture |