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: | Overlaps Intron 37 - Exon 38 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FANCI | NM_001113378.1 | NP_001106849.1 | ||
NM_018193.2 | NP_060663.2 | |||
XM_011521756.2 | XP_011520058.1 | |||
XM_011521757.2 | XP_011520059.1 | |||
XM_011521764.2 | XP_011520066.1 | |||
XM_011521767.2 | XP_011520069.1 | |||
AB058697.1 | BAB47423.1 | |||
AK001581.1 | BAA91770.1 | |||
AK027564.1 | BAB55200.1 | |||
AK055176.1 | ||||
BC140769.1 | ||||
BC144483.1 | ||||
CN365698.1 | ||||
EF469766.1 | ||||
EF567077.1 |
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 Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLG | NM_001126131.1 | 23 | 4380 | NP_001119603.1 |
NM_002693.2 | 23 | 4392 | NP_002684.1 | |
AK130624.1 | 6 | 1266 | ||
AW015913.1 | 1 | 73 | ||
BC042571.1 | 23 | 4377 | AAH42571.1 | |
BC050559.1 | 23 | 4361 | AAH50559.1 | |
D84103.1 | 22 | 4216 | BAA12223.1 | |
U60325.1 | 22 | 4269 | AAC50712.1 | |
X98093.1 | 23 | 4392 | 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 | LOC105371031 LINC00928 RHCG MIR6766 LOC105370962 TICRR RLBP1 FANCI MIR9-3HG POLG ABHD2 MIR9-3 |
nsv833086 | Chr.15:89275748 - 89437378 on Build GRCh38 | Loss | LOC105371031 MIR6766 LOC105370962 FANCI MIR9-3HG POLG MIR9-3 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |