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