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 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FAN1 | NM_014967.4 | 15 | 3548 | NP_055782.3 |
XM_005254232.4 | 15 | 3556 | XP_005254289.1 | |
XM_005254234.4 | 15 | 3602 | XP_005254291.1 | |
XM_005254235.3 | 15 | 3438 | XP_005254292.1 | |
XM_011521370.2 | 15 | 2241 | XP_011519672.1 | |
XM_011521371.1 | 16 | 3667 | XP_011519673.1 | |
XM_017022012.1 | 14 | 3318 | XP_016877501.1 | |
XM_017022013.1 | 14 | 3331 | XP_016877502.1 | |
AB023235.2 | 15 | 3495 | ||
CR936727.1 | 16 | 3662 | ||
CR936734.1 | 15 | 3518 |
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 Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTMR10 | NM_017762.2 | 16 | 2137 | NP_060232.2 |
XM_005254508.2 | 15 | 2016 | XP_005254565.1 | |
XM_011521737.2 | XP_011520039.1 | |||
XM_017022384.1 | 16 | 2144 | XP_016877873.1 | |
AK296926.1 | ||||
AK303672.1 | 3 | 486 | ||
AL832137.1 | 4 | 2703 | ||
AL832603.1 | 16 | 2132 | ||
KJ534882.1 | ||||
KJ534883.1 | 16 | 2039 | ||
KJ534987.1 | ||||
KJ535012.1 | ||||
KJ535030.1 | 16 | 2082 | ||
KJ535071.1 | 15 | 1954 | ||
KJ535075.1 | 16 | 2075 | ||
KJ535083.1 | 15 | 1914 |
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 | MTMR10 TRPM1 FAN1 |
nsv525795 | Chr.15:30644082 - 31032328 on Build GRCh38 | Gain | MTMR10 TRPM1 LOC101930434 HERC2P10 FAN1 LOC107984025 LOC100288637 |
esv3569376 | Chr.15:30781533 - 30987140 on Build GRCh38 | Gain | MTMR10 LOC101930434 HERC2P10 FAN1 LOC107984025 |
esv33507 | Chr.15:30891121 - 31178820 on Build GRCh38 | Loss | MTMR10 TRPM1 FAN1 MIR211 |
nsv521842 | Chr.15:30848497 - 30980467 on Build GRCh38 | Gain | MTMR10 FAN1 |
nsv1046874 | Chr.15:30715930 - 31002451 on Build GRCh38 | Gain | MTMR10 TRPM1 LOC101930434 HERC2P10 FAN1 LOC107984025 LOC100288637 |
esv3636036 | Chr.15:30818302 - 31038636 on Build GRCh38 | Gain | MTMR10 TRPM1 HERC2P10 FAN1 |
nsv832952 | Chr.15:30912223 - 31041795 on Build GRCh38 | Gain+Loss | MTMR10 TRPM1 FAN1 |
More Information
Additional Information:
For this assay, SNP(s) [rs77744811] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |