MMAA c.503del Reference Standard
CBPD0032
詢(xún) 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 | MMAA |
| DNA Change | NM_172250.3:c.503delC |
| AA Change | p.Thr168fs |
| Zygosity | Heterozygous |
| Allelic Frequency | 50% |
| Chr position (GRCh37) | Chr4: 146563578 delC |
| 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 |
