Assay Details
Target Gene Details
Entrez Gene ID: | 22909 |
Gene Name: | FANCD2/FANCI-associated nuclease 1 |
Gene Aliases: |
KIAA1018, KMIN, MTMR15, hFAN1 |
Location: |
Chr.15:30903695-30943108 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FAN1 | NM_014967.4 | 11 | 2833 | NP_055782.3 |
XM_005254232.4 | 11 | 2841 | XP_005254289.1 | |
XM_005254234.4 | 11 | 2887 | XP_005254291.1 | |
XM_005254235.3 | 11 | 2723 | XP_005254292.1 | |
XM_011521370.2 | 11 | 1526 | XP_011519672.1 | |
XM_011521371.1 | 12 | 2952 | XP_011519673.1 | |
XM_017022012.1 | 10 | 2603 | XP_016877501.1 | |
XM_017022013.1 | 10 | 2616 | XP_016877502.1 | |
AB023235.2 | 11 | 2780 | ||
CR936727.1 | 12 | 2947 | ||
CR936734.1 | 11 | 2803 | ||
HM560957.1 | 10 | 2542 | ||
KJ535046.1 |
Target Gene Details
Entrez Gene ID: | 54893 |
Gene Name: | myotubularin related protein 10 |
Gene Aliases: |
- |
Location: |
Chr.15:30919764-30991604 on Build GRCh38 |
Assay Gene Location: | Within Intron 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTMR10 | XM_011521737.2 | XP_011520039.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832951 | Chr.15:30839036 - 31012266 on Build GRCh38 | Loss | TRPM1 MTMR10 FAN1 |
nsv525795 | Chr.15:30644082 - 31032328 on Build GRCh38 | Gain | TRPM1 HERC2P10 MTMR10 LOC101930434 FAN1 LOC107984025 LOC100288637 |
esv3569376 | Chr.15:30781533 - 30987140 on Build GRCh38 | Gain | HERC2P10 MTMR10 LOC101930434 FAN1 LOC107984025 |
esv33507 | Chr.15:30891121 - 31178820 on Build GRCh38 | Loss | TRPM1 MTMR10 FAN1 MIR211 |
nsv521842 | Chr.15:30848497 - 30980467 on Build GRCh38 | Gain | MTMR10 FAN1 |
nsv1046874 | Chr.15:30715930 - 31002451 on Build GRCh38 | Gain | TRPM1 HERC2P10 MTMR10 LOC101930434 FAN1 LOC107984025 LOC100288637 |
esv3636036 | Chr.15:30818302 - 31038636 on Build GRCh38 | Gain | TRPM1 HERC2P10 MTMR10 FAN1 |
nsv832952 | Chr.15:30912223 - 31041795 on Build GRCh38 | Gain+Loss | TRPM1 MTMR10 FAN1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |