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 Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDILT | NM_174924.1 | NP_777584.1 | ||
XM_011545764.1 | XP_011544066.1 | |||
XM_011545765.1 | XP_011544067.1 | |||
XM_011545766.2 | XP_011544068.1 | |||
AK097476.1 | BAC05068.1 | |||
BC042607.1 | AAH42607.1 | |||
BC044936.1 | 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 | ACSM5 UMOD PDILT GP2 |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | ACSM5 UMOD ACSM2A PDILT |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | ACSM5 GPRC5B UMOD LOC100190986 ITPRIPL2 LOC81691 SMG1P3 PDILT IQCK NPIPB3 GP2 SYT17 CRYM C16orf62 ACSM2A GPR139 ZP2 ACSM3 LOC102723385 TMC7 TMC5 ERI2 CCP110 THUMPD1 SNX29P1 COQ7 CRYM-AS1 LYRM1 TMEM159 ANKS4B CLEC19A ACSM1 KNOP1 DCUN1D3 DNAH3 ACSM2B GDE1 |
nsv1759 | Chr.16:20339264 - 20373446 on Build GRCh38 | Insertion | UMOD PDILT |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | ACSM5 UMOD ACSM2A PDILT |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |