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: | Overlaps Intron 2 - Exon 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 | |||
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 | PDILT ACSM2A ACSM5 |
dgv2795n100 | Chr.16:20325210 - 20411678 on Build GRCh38 | Gain | UMOD PDILT ACSM5 GP2 |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | UMOD PDILT ACSM2A ACSM5 |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | TMC5 ACSM3 LYRM1 UMOD IQCK KNOP1 CLEC19A TMC7 LOC100190986 CCP110 SNX29P1 GPR139 ITPRIPL2 LOC81691 LOC102723385 DCUN1D3 GDE1 CRYM ANKS4B SYT17 GP2 ZP2 THUMPD1 PDILT ACSM1 DNAH3 COQ7 ERI2 TMEM159 GPRC5B ACSM2A ACSM2B SMG1P3 CRYM-AS1 ACSM5 C16orf62 NPIPB3 |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | UMOD PDILT ACSM2A ACSM5 |
More Information
Additional Information:
For this assay, SNP(s) [rs79082413] 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 Non-exonic DGV Variation |