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南京科佰生物科技有限公司

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當(dāng)前位置：南京科佰生物科技有限公司>>基因檢測(cè)標(biāo)準(zhǔn)品>>Mutation>> CBP10573PMS2 p.E504Q Reference Standard 標(biāo)準(zhǔn)品

訂金: ￥ 900

訂貨量: ≥1 件

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產(chǎn)品型號(hào)CBP10573

品牌cobioer/科佰生物

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產(chǎn)品簡介

供貨周期	現(xiàn)貨	規(guī)格	1ug
貨號(hào)	CBP10573	應(yīng)用領(lǐng)域	生物產(chǎn)業(yè)

PMS2 p.E504Q Reference Standard

CBP10573
Format	Genomic DNA
Description	PMS2, PMS1 homolog 2, mismatch repair system component, interacts with MLH1 to form the MutL-alpha complex, which functions in DNA mismatch repair and is associated with microsatellite instability (MSI) and genomic stability. Germline PMS2 mutations are associated with Lynch syndrome , mutations in PMS2 are associated with susceptibility to colon cancer and endometrial cancer, and overexpression has been reported in prostate cancer.

Technical Data
DNA Change	c.1510G>C
AA Change	p.E504Q
Mutation type	Missense_Mutation
Zygosity	Heterozygous
Allelic Frequency	66.67%
Transcript	NM_000535.7
Cosmic ID	N/A
Chr position(GRCh37)	chr7:6026886
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