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MMAA c.650T>A Reference Standard

CBPD0033

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索取COA
產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫
Introduction
Format Genomic DNA
Description Methylmalonic acidemia (MMA) is a lethal, severe heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with poor prognosis. Two main forms of the disease have been identified, isolated methylmalonic acidurias and combined methylmalonic aciduria and homocystinuria, which is respectively caused by different gene mutations. 
   
Technical Data
Gene MMAA
DNA Change NM_172250.3:c.650T>A
AA Change p.Leu217Ter
Zygosity Heterozygous
Allelic Frequency 50%
Chr position (GRCh37) Chr4: 146567225 T>A
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 Download for COA
Storage 2-8°C
Expiry 36 months from the date of manufacture

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