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 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLG | NM_001126131.1 | 10 | 2068 | NP_001119603.1 |
NM_002693.2 | 10 | 2080 | NP_002684.1 | |
AK291281.1 | 10 | 2099 | ||
BC042571.1 | 10 | 2065 | AAH42571.1 | |
BC050559.1 | 10 | 2049 | AAH50559.1 | |
D84103.1 | 9 | 1904 | BAA12223.1 | |
U60325.1 | 9 | 1957 | AAC50712.1 | |
X98093.1 | 10 | 2080 | 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 | LOC105370962 FANCI LINC00928 ABHD2 POLG RHCG RLBP1 MIR9-3 LOC105371031 MIR6766 MIR9-3HG TICRR |
esv2749999 | Chr.15:89324721 - 89325880 on Build GRCh38 | Deletion | POLG |
nsv833086 | Chr.15:89275748 - 89437378 on Build GRCh38 | Loss | LOC105370962 FANCI POLG MIR9-3 LOC105371031 MIR6766 MIR9-3HG |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |