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 6 |
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_011523560.2 | XP_011521862.1 | |||
XM_011523561.2 | XP_011521863.1 | |||
XM_017024484.1 | XP_016879973.1 | |||
XM_017024485.1 | XP_016879974.1 | |||
AK074405.1 | BAB85072.1 | |||
BC018205.1 | AAH18205.2 | |||
BC035561.1 | AAH35561.1 | |||
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 | NARF FOXK2 OGFOD3 C17orf62 HEXDC |
nsv1062980 | Chr.17:82408938 - 82687942 on Build GRCh38 | Gain | WDR45B NARF FOXK2 MIR4525 OGFOD3 C17orf62 HEXDC RAB40B |
nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain | SNORD134 PPP1R27 MIR6786 FN3K C17orf62 HGS PCYT2 MAFG-AS1 NOTUM FOXK2 NPLOC4 CD7 ALYREF DUS1L TEX19 ZNF750 P4HB LOC101929552 MRPL12 LOC105376791 LOC105371944 MCRIP1 SIRT7 B3GNTL1 GPS1 LOC105371925 TEPSIN PYCR1 TBCD RAC3 OGFOD3 AATK-AS1 SECTM1 LINC00482 NARF FASN STRA13 SLC16A3 MIR4525 RFNG ARHGDIA SLC38A10 CCDC137 ANAPC11 UTS2R LOC105376790 MYADML2 FN3KRP ARL16 HEXDC MIR6787 TSPAN10 BAHCC1 C17orf89 PDE6G CSNK1D RAB40B FAAP100 LOC100130370 AATK SLC25A10 CCDC57 TMEM105 ACTG1 MIR3186 WDR45B DCXR GCGR LOC101929511 LRRC45 CEP131 NPB ASPSCR1 MAFG MIR4740 OXLD1 FSCN2 |
nsv1067160 | Chr.17:82381853 - 82446450 on Build GRCh38 | Loss | OGFOD3 C17orf62 LOC105376790 HEXDC |
nsv469561 | Chr.17:82251148 - 82472274 on Build GRCh38 | Loss | NARF LOC101929511 UTS2R CD7 TEX19 OGFOD3 C17orf62 LOC105376790 SECTM1 HEXDC CSNK1D |
nsv833574 | Chr.17:82419054 - 82579254 on Build GRCh38 | Gain | NARF FOXK2 C17orf62 HEXDC |
nsv1067194 | Chr.17:82294731 - 82653129 on Build GRCh38 | Gain | WDR45B NARF FOXK2 UTS2R CD7 TEX19 OGFOD3 C17orf62 LOC105376790 SECTM1 HEXDC |
esv2762577 | Chr.17:82244836 - 82838431 on Build GRCh38 | Gain+Loss | LOC101929552 LOC105376791 FN3K UTS2R TBCD OGFOD3 C17orf62 LOC105376790 SECTM1 FN3KRP HEXDC WDR45B NARF LOC101929511 FOXK2 CD7 MIR4525 TEX19 ZNF750 CSNK1D RAB40B |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | SNORD134 PPP1R27 FN3K C17orf62 PCYT2 MAFG-AS1 NOTUM FOXK2 CD7 ALYREF DUS1L TEX19 ZNF750 P4HB LOC101929552 LOC105376791 LOC105371944 MCRIP1 SIRT7 B3GNTL1 GPS1 PYCR1 TBCD RAC3 OGFOD3 SECTM1 NARF FASN STRA13 SLC16A3 MIR4525 RFNG ARHGDIA ANAPC11 UTS2R LOC105376790 MYADML2 FN3KRP HEXDC MIR6787 CSNK1D RAB40B METRNL CCDC57 WDR45B DCXR LOC101929511 LRRC45 NPB ASPSCR1 MAFG |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |