Assay Details
Target Gene Details
Entrez Gene ID: | 10400 |
Gene Name: | phosphatidylethanolamine N-methyltransferase |
Gene Aliases: |
PEAMT, PEMPT, PEMT2, PNMT |
Location: |
Chr.17:17505561-17591703 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PEMT | NM_001267551.1 | 7 | 725 | NP_001254480.1 |
NM_001267552.1 | 8 | 822 | NP_001254481.1 | |
NM_007169.2 | 7 | 783 | NP_009100.2 | |
NM_148172.2 | 7 | 791 | NP_680477.1 | |
NM_148173.1 | 7 | 670 | NP_680478.1 | |
XM_006721418.3 | 7 | 672 | XP_006721481.2 | |
XM_017024016.1 | 5 | 578 | XP_016879505.1 | |
AB029821.1 | 7 | 783 | BAA82407.1 | |
AF044214.1 | 7 | 756 | AAQ13425.1 | |
AF113126.1 | 7 | 760 | AAF14867.1 | |
AF176806.1 | 7 | 733 | AAD53291.1 | |
AF176807.1 | 7 | 678 | AAD53292.1 | |
AK302251.1 | 8 | 827 | ||
BC000557.2 | 7 | 767 | AAH00557.1 | |
BC050593.1 | 7 | 768 | AAH50593.1 | |
BM011377.1 | 7 | 653 | ||
CR457099.1 | CAG33380.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv574524 | Chr.17:17505170 - 17511280 on Build GRCh38 | Loss | PEMT |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |