基因檢測標準品 > Mutation > CBP10521AI-Edigene® FGFR3 p.R248C Reference Standard
名稱
AI-Edigene® FGFR3 p.R248C Reference Standard
型號
CBP10521
報價
特點
AI-Edigene® FGFR3 p.R248C Reference Standard plus
詳細內容
CBP10521
Format
Genomic DNA
Description
FGFR3 R248C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). R248C confers a gain of function to the Fgfr3 protein as demonstrated by constitutive ligand-independent cell proliferation (PMID: 19381019) and increased activation of the Mapk signaling pathway (PMID: 24626198).
Technical Data
DNA Change
c.742C>T
AA Change
p.R248C
Mutation type
Substitution - Missense
Zygosity
Homozygous
Allelic Frequency
100.00%
Transcript
NM_000142.5
Cosmic ID
COSM714
Chr position(GRCh37)
chr4:1803564
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°C
Expiry
36 months from the date of manufacture
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