| 名稱 | GJB2 p.E120del/p.M195I double mutation Reference S |
| 型號(hào) | CBPD0016 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | GJB2 p.E120del/p.M195I double mutation Reference Standard |
產(chǎn)品搜索
相關(guān)文章
- 優(yōu)生優(yōu)育配對(duì)標(biāo)準(zhǔn)品上新
- 慢病毒整合位點(diǎn)標(biāo)準(zhǔn)品強(qiáng)勢(shì)來襲
- 【新品發(fā)布】DdPCR試劑盒開發(fā)與驗(yàn)證
- 腫瘤細(xì)胞的凋亡與壞死有何區(qū)別？
- atcc細(xì)胞的細(xì)胞核分離原理說明
- ATCC細(xì)胞的培養(yǎng)方法
- 細(xì)胞因子風(fēng)暴和自身免疫性炎癥治療新靶點(diǎn)GM-CSF
- 【新品上線】TIM-3細(xì)胞篩選模型
- ATCC細(xì)胞單純的固定液一般難以達(dá)到這些要求
- 【產(chǎn)品推介】IL12細(xì)胞篩選模型
聯(lián)系我們
聯(lián)系人：蔣經(jīng)理
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
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
產(chǎn)品展示 / PRODUCTS
基因檢測(cè)標(biāo)準(zhǔn)品 > 遺傳性耳聾 > CBPD0016GJB2 p.E120del/p.M195I double mutation Reference S
- 詳細(xì)內(nèi)容
CBPD0016 | |
| 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.358_360del |
| AA Change: p.E120del | |
| Chr position(GRCh37): chr13-20763361-CTC- | |
| Zygosity: Heterozygous | |
| Allelic Frequency: 50% | |
| Variant Classification: Pathogenic | |
| Mutation 2 | DNA Change: c.585G>A |
| AA Change: p.M195I | |
| Chr position(GRCh37): chr13-20763136-C-T | |
| Zygosity: Heterozygous | |
| Allelic Frequency: 50% | |
| Variant Classification: Uncertain significance | |
| Transcript | NM_004004.6 |
| 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.E120del
Figure 2. GJB2 p.M195I |
| Storage | 4°C |
| Expiry | 36 months from the date of manufacture |
會(huì)員_a.png)