名称 | PNPLA3 p.I148M Reference Standard 用药 |
型号 | CBPA0135 |
报价 | |
特点 | PNPLA3 p.I148M Reference Standard 用药指导 |
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PNPLA3 p.I148M Reference Standard 用药指导
Introduction | |
Format | Genomic DNA |
Description | The human patatin-like phospholipase domain-containing 3 (PNPLA3) gene is located in the long arm of the chromosome 22, it has nine exons with a transcript length of 2805 base pairs encodings for a protein of 481 amino-acids. The PNPLA3 rs738409 is a single nucleotide substitution of a cytosine to guanine encoding for a nonsynonymous change, namely an isoleucine to methionine substitution at position 148 (I148M) of the protein. |
Technical Data | |
Mutatation 1 | Gene: PNPLA3 |
AA Change: p.I148M | |
DNA Change: NM_025225.3 c.444C>G | |
Chr position (GRCh38): chr22: 43928847 C>G | |
Allelic Frequency: 50% | |
Zygosity: Heterozygous | |
Mutatation 2 | Gene: PNPLA3 |
AA Change: p.p149= | |
DNA Change: NM_025225.3 c.447C>T | |
Chr position (GRCh38): chr22: 43928850 C>T | |
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 | 4°C |
Expiry | 36 months from the date of manufacture |
PNPLA3 p.I148M Reference Standard 用药指导