Assay Details
Target Gene Details
Entrez Gene ID: | 115294 |
Gene Name: | protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 |
Gene Aliases: |
- |
Location: |
Chr.8:51817575-51899186 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCMTD1 | NM_001286782.1 | 4 | 3457 | NP_001273711.1 |
NM_001286783.1 | 6 | 3752 | NP_001273712.1 | |
NM_052937.3 | 6 | 3962 | NP_443169.2 | |
XM_011517444.2 | 5 | 3551 | XP_011515746.1 | |
XM_017013017.1 | 6 | 3795 | XP_016868506.1 | |
AF293366.1 | 1 | 248 | AAG10068.1 | |
AL833027.1 | 5 | 3363 | CAH56272.1 | |
BC010693.1 | 4 | 3245 | AAH10693.1 | |
BC032670.1 | 5 | 3707 | AAH32670.1 | |
BX640885.1 | 4 | 3272 | CAE45939.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv7215n100 | Chr.8:51498883 - 51974205 on Build GRCh38 | Gain | PXDNL LOC102724330 PCMTD1 |
nsv1078613 | Chr.8:51817639 - 51820640 on Build GRCh38 | Duplication | PCMTD1 |
nsv951429 | Chr.8:51816041 - 51820640 on Build GRCh38 | Duplication | PCMTD1 |
nsv824630 | Chr.8:51817576 - 51818286 on Build GRCh38 | Loss | PCMTD1 |
nsv817615 | Chr.8:51339845 - 52110824 on Build GRCh38 | Gain | PXDNL LOC102724330 PCMTD1 |
nsv831316 | Chr.8:51747793 - 51930368 on Build GRCh38 | Gain | PXDNL LOC102724330 PCMTD1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |