Assay Details
Target Gene Details
Entrez Gene ID: | 284004 |
Gene Name: | hexosaminidase D |
Gene Aliases: |
- |
Location: |
Chr.17:82418376-82442645 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HEXDC | NM_173620.2 | NP_775891.2 | ||
XM_005256346.3 | XP_005256403.1 | |||
XM_005256347.4 | XP_005256404.1 | |||
XM_006722280.3 | XP_006722343.1 | |||
XM_017024484.1 | XP_016879973.1 | |||
XM_017024485.1 | XP_016879974.1 | |||
AK074405.1 | BAB85072.1 | |||
BC018205.1 | AAH18205.2 | |||
BC035561.1 | AAH35561.1 | |||
DN999062.1 | ||||
FM204887.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160502 | Chr.17:82411695 - 82526070 on Build GRCh38 | Deletion | C17orf62 OGFOD3 HEXDC NARF FOXK2 |
esv2760445 | Chr.17:82267669 - 82421456 on Build GRCh38 | Gain | UTS2R OGFOD3 HEXDC CD7 LOC105376790 CSNK1D SECTM1 TEX19 LOC101929511 |
nsv1062980 | Chr.17:82408938 - 82687942 on Build GRCh38 | Gain | C17orf62 WDR45B OGFOD3 HEXDC NARF RAB40B FOXK2 MIR4525 |
nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain | LOC105376791 ANAPC11 TMEM105 MIR6786 BAHCC1 MIR3186 C17orf89 RAB40B PPP1R27 ARL16 CCDC137 LOC105376790 SECTM1 ACTG1 LINC00482 GCGR LOC101929511 TEPSIN ZNF750 WDR45B SLC16A3 OGFOD3 NPLOC4 CEP131 LOC101929552 LRRC45 ASPSCR1 NARF MRPL12 OXLD1 P4HB SLC38A10 MIR4525 TEX19 LOC105371944 RAC3 FSCN2 MIR6787 C17orf62 AATK MIR4740 NPB CD7 MYADML2 TSPAN10 CSNK1D STRA13 SIRT7 LOC105371925 ALYREF FN3KRP DUS1L NOTUM TBCD PYCR1 PDE6G B3GNTL1 AATK-AS1 RFNG PCYT2 FOXK2 CCDC57 ARHGDIA UTS2R DCXR GPS1 FN3K SLC25A10 HEXDC FASN MCRIP1 FAAP100 MAFG-AS1 LOC100130370 MAFG SNORD134 HGS |
nsv1067160 | Chr.17:82381853 - 82446450 on Build GRCh38 | Loss | C17orf62 OGFOD3 HEXDC LOC105376790 |
nsv828143 | Chr.17:82400094 - 82429642 on Build GRCh38 | Loss | OGFOD3 HEXDC |
nsv469561 | Chr.17:82251148 - 82472274 on Build GRCh38 | Loss | C17orf62 UTS2R OGFOD3 HEXDC NARF CD7 LOC105376790 CSNK1D SECTM1 TEX19 LOC101929511 |
nsv833574 | Chr.17:82419054 - 82579254 on Build GRCh38 | Gain | C17orf62 HEXDC NARF FOXK2 |
nsv1067194 | Chr.17:82294731 - 82653129 on Build GRCh38 | Gain | C17orf62 UTS2R WDR45B OGFOD3 HEXDC NARF CD7 LOC105376790 SECTM1 FOXK2 TEX19 |
esv2762577 | Chr.17:82244836 - 82838431 on Build GRCh38 | Gain+Loss | LOC105376791 C17orf62 UTS2R FN3K HEXDC NARF RAB40B CD7 LOC105376790 CSNK1D FN3KRP SECTM1 MIR4525 TEX19 LOC101929511 ZNF750 TBCD WDR45B OGFOD3 LOC101929552 FOXK2 |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | LOC105376791 ANAPC11 RAB40B PPP1R27 LOC105376790 SECTM1 LOC101929511 ZNF750 WDR45B SLC16A3 OGFOD3 LOC101929552 LRRC45 ASPSCR1 NARF P4HB MIR4525 TEX19 LOC105371944 RAC3 MIR6787 C17orf62 NPB CD7 MYADML2 CSNK1D STRA13 SIRT7 ALYREF FN3KRP DUS1L NOTUM TBCD PYCR1 B3GNTL1 RFNG PCYT2 FOXK2 CCDC57 ARHGDIA UTS2R DCXR GPS1 FN3K HEXDC FASN MCRIP1 METRNL MAFG-AS1 MAFG SNORD134 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |