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: | Overlaps Intron 7 - Exon 8 |
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 | GP2 ACSM5 UMOD PDILT |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | ACSM2A ACSM5 UMOD PDILT |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | DCUN1D3 C16orf62 LOC100190986 SYT17 CRYM PDILT CRYM-AS1 THUMPD1 GP2 TMEM159 GPR139 ZP2 IQCK LYRM1 UMOD ACSM1 CCP110 ACSM3 SMG1P3 ACSM2A COQ7 ITPRIPL2 ANKS4B ACSM2B KNOP1 NPIPB3 DNAH3 TMC7 TMC5 ACSM5 GDE1 GPRC5B LOC102723385 CLEC19A SNX29P1 ERI2 LOC81691 |
nsv1759 | Chr.16:20339264 - 20373446 on Build GRCh38 | Insertion | UMOD PDILT |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | ACSM2A ACSM5 UMOD PDILT |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |