PTEN p.N323Mfs*21 Reference Standard
CBP10448
詢 價
索取COA
產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫
| Introduction | |
| Gene | PTEN |
| Description |
PTEN p.N323Mfs*21 is a frameshift mutation? in the PTEN tumor suppressor gene. It produces a truncated, non-functional protein, leading to loss of PTEN activity. This dysfunction is a key driver in various cancers, such as endometrial and prostate cancers, and is associated with PTEN Hamartoma Tumor Syndrome.
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| Technical Data | |
| DNA Change | c.968del(Deletion) |
| AA Change | p.N323Mfs*21 |
| Mutation type | Deletion-Frameshift |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000371953.3 |
| Cosmic ID | COSM5801 |
| Chr position(GRCh37) | chr10:89720817 |
| 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 |
