Assay Details
Target Gene Details
Entrez Gene ID: | 5428 |
Gene Name: | DNA polymerase gamma, catalytic subunit |
Gene Aliases: |
MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE |
Location: |
Chr.15:89316305-89334795 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLG | NM_001126131.1 | 2 | 710 | NP_001119603.1 |
NM_002693.2 | 2 | 722 | NP_002684.1 | |
AK291281.1 | 2 | 741 | ||
BC042571.1 | 2 | 707 | AAH42571.1 | |
BC050559.1 | 2 | 691 | AAH50559.1 | |
D84103.1 | 1 | 540 | BAA12223.1 | |
U60325.1 | 1 | 601 | AAC50712.1 | |
X98093.1 | 2 | 722 | CAA66719.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1038140 | Chr.15:89141274 - 89620108 on Build GRCh38 | Gain | MIR9-3 RHCG POLG LINC00928 LOC105371031 ABHD2 RLBP1 TICRR FANCI LOC105370962 MIR6766 MIR9-3HG |
esv23656 | Chr.15:89332647 - 89334954 on Build GRCh38 | Loss | POLG LOC105370962 |
nsv833086 | Chr.15:89275748 - 89437378 on Build GRCh38 | Loss | MIR9-3 POLG LOC105371031 FANCI LOC105370962 MIR6766 MIR9-3HG |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |