MTHFR 677C>T Reference Standard
CBPA0128
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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.A222V |
| DNA Change | NM_005957.5_c.665C>T |
| Chr position (GRCh38) | chr11:11796321C>T |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| 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 |
