CREBBP p.R1446C Reference Standard
CBP10248
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| Introduction | |
| Format | Genomic DNA |
| Description | CREBBP, CREB-binding protein, is an acetyltransferase (PMID: 30181244) that plays a key role in transcription regulation for a number of different genes involved in a variety of cellular processes including proliferation, differentiation, apoptosis, and DNA repair (PMID: 27380996, PMID: 20435671). Expression, mutations and chromosomal translocations of CREBBP have been associated with various human cancers (PMID: 23839013; PMID: 21390130; PMID: 23022987; PMID: 9290955), including glioblastoma, leukemia (PMID: 21390130, PMID: 21390126, PMID: 25423036), and small cell lung cancer (PMID: 30181244). |
| Technical Data | |
| DNA Change | c.4336C>T |
| AA Change | p.R1446C |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 66.67% |
| Transcript | NM_004380.3 |
| Cosmic ID | COSM88749 |
| Chr position(GRCh37) | chr16:3788618 |
| 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 |
