MTHFR 1298A>C Reference Standard
CBPA0020
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| Introduction | |
| Format | Genomic DNA |
| Description | MTHFR (Methylenetetrahydrofolate Reductase) is a Protein Coding gene. Diseases associated with MTHFR include Homocystinuria Due To Deficiency Of N -Methylenetetrahydrofolate Reductase Activity and Neural Tube Defects, Folate-Sensitive. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Carbon metabolism. |
| Technical Data | |
| Gene | MTHFR |
| AA Change | p.E429A |
| DNA Change | NM_005957.4_c.1286A>C |
| Chr position (GRCh38) | NC_000001.11_g.11794419T>G |
| Allelic Frequency | 50% |
| Zygosity | Heterozygous |
| 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 | 2-8°C |
| Expiry | 36 months from the date of manufacture |
