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首頁(yè) /診斷試劑 /遺傳性基因標(biāo)準(zhǔn)品 /甲基丙二酸血癥 /MMUT c.1106G>A Reference Standard

MMUT c.1106G>A Reference Standard

CBPD0035

詢 價(jià)
索取COA
產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
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 MMUT
DNA Change NM_000255.4:c.1106G>A
AA Change p.Arg369His
Zygosity Heterozygous
Allelic Frequency 50%
Chr position (GRCh37) Chr6: 49419405 G>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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