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基因檢測(cè)標(biāo)準(zhǔn)品 > Mutation > CBP10507AI-Edigene® c-KIT p.D816V Reference Standard

AI-Edigene® c-KIT p.D816V Reference Standard
名稱(chēng) AI-Edigene® c-KIT p.D816V Reference Standard
型號(hào) CBP10507
報(bào)價(jià)
特點(diǎn) AI-Edigene® c-KIT p.A502_Y503dup Reference Standard Plus
  • 詳細(xì)內(nèi)容
 CBP10507
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.2447A>T
AA Changep.D816V
Mutation typeSubstitution - Missense
ZygosityHomozygous
Allelic Frequency100%
TranscriptNM_000222.2
Cosmic IDCOSM1314
Chr position(GRCh37)chr4:55599321
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

10507.png

Storage4℃
Expiry36 months from the date of manufacture

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