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: | Overlaps Intron 7 - Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCMTD1 | NM_001286782.1 | NP_001273711.1 | ||
NM_001286783.1 | NP_001273712.1 | |||
NM_052937.3 | NP_443169.2 | |||
XM_011517444.2 | XP_011515746.1 | |||
XM_017013017.1 | XP_016868506.1 | |||
AK056952.1 | BAB71324.1 | |||
AK304196.1 | ||||
AK304332.1 | ||||
AL833027.1 | CAH56272.1 | |||
BC010693.1 | AAH10693.1 | |||
BC032670.1 | AAH32670.1 | |||
BX640885.1 | 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 PCMTD1 LOC102724330 |
nsv967589 | Chr.8:51818471 - 51822585 on Build GRCh38 | Duplication | PCMTD1 |
nsv817615 | Chr.8:51339845 - 52110824 on Build GRCh38 | Gain | PXDNL PCMTD1 LOC102724330 |
nsv831316 | Chr.8:51747793 - 51930368 on Build GRCh38 | Gain | PXDNL PCMTD1 LOC102724330 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |