Assay Details
Target Gene Details
Entrez Gene ID: | 204474 |
Gene Name: | protein disulfide isomerase like, testis expressed |
Gene Aliases: |
PDIA7 |
Location: |
Chr.16:20359170-20404742 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDILT | NM_174924.1 | 12 | 1874 | NP_777584.1 |
XM_011545766.2 | 8 | 1059 | XP_011544068.1 | |
AK097476.1 | 12 | 1900 | BAC05068.1 | |
BC042607.1 | 12 | 1874 | AAH42607.1 | |
BC044936.1 | 12 | 1874 | AAH44936.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv2795n100 | Chr.16:20325210 - 20411678 on Build GRCh38 | Gain | PDILT UMOD ACSM5 GP2 |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | SNX29P1 ERI2 ACSM3 CLEC19A TMEM159 GDE1 COQ7 SYT17 ACSM1 LOC100190986 GPR139 THUMPD1 LOC81691 CRYM CCP110 DCUN1D3 DNAH3 PDILT UMOD IQCK KNOP1 ITPRIPL2 LOC102723385 ACSM2B ANKS4B TMC7 LYRM1 CRYM-AS1 TMC5 SMG1P3 NPIPB3 ACSM2A ACSM5 GP2 ZP2 C16orf62 GPRC5B |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | PDILT UMOD ACSM2A ACSM5 |
nsv1759 | Chr.16:20339264 - 20373446 on Build GRCh38 | Insertion | PDILT UMOD |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | PDILT UMOD ACSM2A ACSM5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |