ATRX p.T1529del Reference Standard
CBP10751
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| Introduction | |
| Format | Genomic DNA |
| Description | ATRX（Alpha Thalassemia/Mental Retardation Syndrome X-linked）是一种染色质重塑蛋白，属于Swi/Snf家族。该蛋白在细胞周期中经历磷酸化，调控其与核基质和染色质的结合，参与有丝分裂的间期基因表达和染色体分离，对维持基因组稳定性至关重要。其突变与多种遗传病和恶性肿瘤相关，尤其在神经胶质瘤中具有重要的临床应用价值。 |
| 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 |
| Purity | Download for COA |
| DNA electrophoresis | Download for COA |
| Sanger sequencing |  |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
| Homozygous |
