FH p.R3G Reference Standard
CBP10617
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| Introduction | |
| Format | Genomic DNA |
| Description | FH (Fumarate Hydratase) is a Protein Coding gene. Diseases associated with FH include Fumarase Deficiency and Hereditary Leiomyomatosis And Renal Cell Cancer. |
| Technical Data | |
| DNA Change | c.7C>G |
| AA Change | p.R3G |
| Mutation type | Substitution - Missense |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | NM_000143.4 |
| Cosmic ID | COSM6953940 |
| Chr position(GRCh37) | chr1-241683016-G-C |
| 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 |  |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
