Assay Details
Target Gene Details
Entrez Gene ID: | 55215 |
Gene Name: | Fanconi anemia complementation group I |
Gene Aliases: |
KIAA1794 |
Location: |
Chr.15:89243954-89317132 on Build GRCh38 |
Assay Gene Location: | Within Exon 38 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FANCI | NM_001113378.1 | 38 | 4567 | NP_001106849.1 |
NM_018193.2 | 37 | 4387 | NP_060663.2 | |
XM_011521756.2 | 38 | 4591 | XP_011520058.1 | |
XM_011521757.2 | 38 | 4587 | XP_011520059.1 | |
XM_011521764.2 | 37 | 4411 | XP_011520066.1 | |
XM_011521767.2 | 38 | 4561 | XP_011520069.1 | |
AB058697.1 | 24 | 4491 | BAB47423.1 | |
AK027564.1 | 26 | 3274 | BAB55200.1 |
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 Intron 22 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLG | NM_001126131.1 | NP_001119603.1 | ||
NM_002693.2 | NP_002684.1 | |||
AK130624.1 | ||||
AK291281.1 | ||||
BC042571.1 | AAH42571.1 | |||
BC050559.1 | AAH50559.1 | |||
D84103.1 | BAA12223.1 | |||
U60325.1 | AAC50712.1 | |||
X98093.1 | 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 | POLG LOC105370962 RHCG LOC105371031 TICRR FANCI RLBP1 MIR6766 MIR9-3 MIR9-3HG LINC00928 ABHD2 |
nsv833086 | Chr.15:89275748 - 89437378 on Build GRCh38 | Loss | POLG LOC105370962 LOC105371031 FANCI MIR6766 MIR9-3 MIR9-3HG |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |