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 3 |
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 | UMOD ACSM5 PDILT GP2 |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | UMOD ACSM5 ACSM2A PDILT |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | ACSM1 ACSM3 CCP110 ANKS4B DNAH3 THUMPD1 GPRC5B SMG1P3 LOC102723385 TMC5 ACSM2B GPR139 IQCK ACSM5 KNOP1 SYT17 GDE1 LOC100190986 NPIPB3 LOC81691 TMEM159 PDILT TMC7 DCUN1D3 GP2 CRYM UMOD CLEC19A ACSM2A CRYM-AS1 C16orf62 ERI2 LYRM1 ZP2 SNX29P1 COQ7 ITPRIPL2 |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | UMOD ACSM5 ACSM2A PDILT |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |