UGT1A1*1 Reference Standard
CBPA0110
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| Introduction | |
| Format | Genomic DNA |
| Description | UGT1A1, UDP-glucuronosyltransferase 1-1, is an enzyme that catalyzes the glucuronidation of substances to soluble metabolites for excretion (PMID: 28520360). Genetic polymorphisms in UGT1A1 may alter the metabolism of chemotherapy drugs such as irinotecan, resulting in severe toxicity. |
| Technical Data | |
| Mutation 1 | Gene: UGT1A1*60 WT |
| AA Change: N/A | |
| DNA Change: NM_000463.3 c.-3275T>G | |
| Chr position (GRCh38): chr2:233757013T>G | |
| Allelic Frequency: 0% | |
| Zygosity: Wlid Type | |
| Mutation 2 | Gene: UGT1A1*28 WT |
| AA Change: N/A | |
| DNA Change: NM_000463.3 c.-53insTA | |
| Chr position (GRCh38): chr2: 233760235TA | |
| Allelic Frequency: 0% | |
| Zygosity: Wlid Type | |
| Mutation 3 | Gene: UGT1A1*27 WT |
| AA Change: p.P229Q | |
| DNA Change: NM_000463.3 c.686C>A | |
| Chr position (GRCh38): chr2:233760973C>A | |
| Allelic Frequency: 0% | |
| Zygosity: Wlid Type | |
| Mutation 4 | Gene: UGT1A1*6 WT |
| AA Change: p.G71R | |
| DNA Change: NM_000463.3 c.211G>A | |
| Chr position (GRCh38): chr2: 233760498G>A | |
| Allelic Frequency: 0% | |
| Zygosity: Wlid Type | |
| 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 |
Figure 1. UGT1A1*1 Reference Standard c.-3275T>G
Figure 2. UGT1A1*1 Reference Standard c.-53insTA
Figure 3. UGT1A1*1 Reference Standard c.686C>A
Figure 4. UGT1A1*1 Reference Standard c.211G>A |
| Storage | 2-8°C |
| Expiry | 36 months from the date of manufacture |
