POLD1 p.P116Hfs*53 Reference Standard
CBP10738
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產(chǎn)品描述
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| Introduction | |
| Format | Genomic DNA |
| Description | POLD1, DNA polymerase delta 1, catalytic subunit, is the catalytic subunit and the largest of four subunits that form the DNA polymerase delta holoenzyme, which mediates DNA replication and repair. Germline and somatic mutations in POLD1 have been identified in a variety of human cancers, including colorectal cancer and lung cancer, and may be associated with high tumor mutational burden and response to immunotherapy. |
| Technical Data | |
| DNA Change | c.342del |
| AA Change | p.P116Hfs*53 |
| Mutation type | Deletion - Frameshift |
| Zygosity | Heterozygous |
| Allelic Frequency | 66.67% (NGS) |
| Transcript | ENST00000440232.2 |
| Cosmic ID | COSM1395444 |
| Chr position(GRCh37) | chr19:50905060 |
| 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 |
