BMPR1A p.L59* Reference Standard
CBP10741
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| Introduction | |
| Format | Genomic DNA |
| Description | BMPR1A, bone morphogenetic protein receptor type IA, is a serine/threonine kinase receptor that activates SMAD signaling pathways, thus regulating transcription of genes involved in growth and development. Germline mutations of BMPR1A are associated with juvenile polyposis syndrome and BMPR1A variations may be risk factors for gastric cancer. |
| Technical Data | |
| DNA Change | c.176del |
| AA Change | p.L59* |
| Mutation type | Insertion - Frameshift |
| Zygosity | N/A |
| Allelic Frequency | N/A |
| Transcript | ENST00000372037.3 |
| Cosmic ID | COSM1967760 |
| Chr position(GRCh37) | chr10:88649927 |
| 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 |
