CBP10507 | |
| Format | Genomic DNA |
| Description | This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. |
| Technical Data | |
| DNA Change | c.2447A>T |
| AA Change | p.D816V |
| Mutation type | Substitution - Missense |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | NM_000222.2 |
| Cosmic ID | COSM1314 |
| Chr position(GRCh37) | chr4:55599321 |
| 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 | 4℃ |
| Expiry | 36 months from the date of manufacture |
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