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 | 4203 | NP_001106849.1 |
NM_018193.2 | 37 | 4023 | NP_060663.2 | |
XM_011521756.2 | 38 | 4227 | XP_011520058.1 | |
XM_011521757.2 | 38 | 4223 | XP_011520059.1 | |
XM_011521764.2 | 37 | 4047 | XP_011520066.1 | |
XM_011521767.2 | 38 | 4197 | XP_011520069.1 | |
AB058697.1 | 24 | 4127 | BAB47423.1 | |
AK027564.1 | 26 | 2910 | BAB55200.1 | |
BC140769.1 | 38 | 4160 | ||
BC144483.1 | 38 | 4160 | ||
CN365698.1 | 4 | 421 |
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 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLG | NM_001126131.1 | 23 | 4156 | NP_001119603.1 |
NM_002693.2 | 23 | 4168 | NP_002684.1 | |
AK130624.1 | 6 | 1042 | ||
AW015913.1 | 1 | 297 | ||
BC042571.1 | 23 | 4153 | AAH42571.1 | |
BC050559.1 | 23 | 4137 | AAH50559.1 | |
D84103.1 | 22 | 3992 | BAA12223.1 | |
DQ599934.1 | ||||
U60325.1 | 22 | 4045 | AAC50712.1 | |
X98093.1 | 23 | 4168 | 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 | RLBP1 RHCG ABHD2 LINC00928 FANCI MIR6766 LOC105371031 MIR9-3 POLG LOC105370962 TICRR MIR9-3HG |
nsv833086 | Chr.15:89275748 - 89437378 on Build GRCh38 | Loss | FANCI MIR6766 LOC105371031 MIR9-3 POLG LOC105370962 MIR9-3HG |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |