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基因檢測(cè)標(biāo)準(zhǔn)品 > Mutation > CBP10605KIT p.V560_Y578del Reference Standard

KIT p.V560_Y578del Reference Standard
名稱 KIT p.V560_Y578del Reference Standard
型號(hào) CBP10605
報(bào)價(jià)
特點(diǎn) KIT p.V560_Y578del Reference Standard
  • 詳細(xì)內(nèi)容
CBP10605
FormatGenomic DNA
DescriptionThis 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 Changec.1679_1735del
AA Changep.V560_Y578del
Mutation typeSubstitution - Missense
ZygosityHeterozygous
Allelic Frequency66.67%
TranscriptNM_000222.3
Cosmic IDN/A
Chr position(GRCh37)chr4-55593613-TT…TG (57bp)Del
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10605 C-KIT Ex11-Del.png

Storage4℃
Expiry36 months from the date of manufacture


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