ATRX p.T1529del Reference Standard
CBP10751
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產(chǎn)品描述
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| Introduction | |
| Format | Genomic DNA |
| Description | ATRX（Alpha Thalassemia/Mental Retardation Syndrome X-linked）是一種染色質(zhì)重塑蛋白，屬于Swi/Snf家族。該蛋白在細(xì)胞周期中經(jīng)歷磷酸化，調(diào)控其與核基質(zhì)和染色質(zhì)的結(jié)合，參與有絲分裂的間期基因表達(dá)和染色體分離，對維持基因組穩(wěn)定性至關(guān)重要。其突變與多種遺傳病和惡性腫瘤相關(guān)，尤其在神經(jīng)膠質(zhì)瘤中具有重要的臨床應(yīng)用價(jià)值。 |
| Technical Data | |
| DNA Change | c.4586_4588del |
| AA Change | p.T1529del |
| Mutation type | Deletion |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | ENST00000395603 |
| Cosmic ID | COSM1684670 |
| Chr position(GRCh38) | chr X:77636029-77636031 |
| 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 |  |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
| Homozygous |
