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 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDILT | NM_174924.1 | NP_777584.1 | ||
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 GP2 PDILT UMOD |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | ACSM5 PDILT UMOD ACSM2A |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | CRYM-AS1 SYT17 TMEM159 ACSM2B ACSM3 LOC81691 C16orf62 TMC7 LOC100190986 NPIPB3 LOC102723385 CCP110 GPRC5B THUMPD1 ACSM5 GP2 KNOP1 COQ7 ITPRIPL2 GPR139 ACSM1 SNX29P1 PDILT TMC5 UMOD GDE1 ANKS4B CLEC19A DCUN1D3 LYRM1 SMG1P3 IQCK CRYM ZP2 DNAH3 ERI2 ACSM2A |
nsv1759 | Chr.16:20339264 - 20373446 on Build GRCh38 | Insertion | PDILT UMOD |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | ACSM5 PDILT UMOD ACSM2A |
More Information
Additional Information:
For this assay, SNP(s) [rs74011990] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |