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 Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDILT | NM_174924.1 | 5 | 871 | NP_777584.1 |
XM_011545764.1 | 5 | 902 | XP_011544066.1 | |
XM_011545765.1 | 5 | 902 | XP_011544067.1 | |
XM_011545766.2 | XP_011544068.1 | |||
AK097476.1 | 5 | 897 | BAC05068.1 | |
BC042607.1 | 5 | 871 | AAH42607.1 | |
BC044936.1 | 5 | 871 | 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 | PDILT ACSM5 UMOD GP2 |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | PDILT ACSM5 UMOD ACSM2A |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | DCUN1D3 ANKS4B LYRM1 ACSM5 UMOD COQ7 ERI2 ACSM2A CRYM-AS1 GPR139 ACSM2B GP2 SMG1P3 PDILT TMC7 C16orf62 TMC5 DNAH3 LOC100190986 IQCK CCP110 ACSM3 LOC81691 SYT17 CLEC19A ACSM1 ZP2 SNX29P1 THUMPD1 NPIPB3 LOC102723385 CRYM TMEM159 GPRC5B ITPRIPL2 KNOP1 GDE1 |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | PDILT ACSM5 UMOD ACSM2A |
More Information
Additional Information:
For this assay, SNP(s) [rs78751740] 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 Exonic DGV Variation |