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基因檢測標(biāo)準(zhǔn)品 > Mutation > CBP10551c-Kit p.N822K Reference Standard 標(biāo)準(zhǔn)品

c-Kit p.N822K Reference Standard 標(biāo)準(zhǔn)品
名稱 c-Kit p.N822K Reference Standard 標(biāo)準(zhǔn)品
型號 CBP10551
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特點(diǎn) c-Kit p.N822K Reference Standard
  • 詳細(xì)內(nèi)容
 CBP10551
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.2466T>A
AA Changep.N822K
Mutation typeSubstitution - Missense
ZygosityHeterozygous
Allelic Frequency75%
TranscriptNM_000222.3
Cosmic IDCOSM1321
Chr position(GRCh37)chr4:55599340
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencingDownload for COA
Storage4℃
Expiry36 months from the date of manufacture

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