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 |
---|---|---|---|
nsv1047399 | Chr.16:20378305 - 20522307 on Build GRCh38 | Gain | ACSM5 ACSM2A PDILT |
dgv2795n100 | Chr.16:20325210 - 20411678 on Build GRCh38 | Gain | ACSM5 UMOD GP2 PDILT |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | ACSM5 UMOD ACSM2A PDILT |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | NPIPB3 CCP110 CLEC19A KNOP1 SYT17 IQCK CRYM-AS1 GPR139 CRYM COQ7 ERI2 ACSM3 ACSM1 GPRC5B ACSM2B TMEM159 SMG1P3 LOC102723385 ITPRIPL2 UMOD DNAH3 GP2 TMC5 LYRM1 DCUN1D3 GDE1 THUMPD1 ACSM5 ACSM2A LOC81691 LOC100190986 ANKS4B ZP2 SNX29P1 TMC7 C16orf62 PDILT |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | ACSM5 UMOD ACSM2A PDILT |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |