Hs03956195_cn

• Gene Symbol: HEXDC
• Assay Reference Genome Location: Chr.17:82432096 on build GRCh38
• Cytoband: 17q25.3

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

More Information

Additional Information:

For this assay, SNP(s) [rs111485281] 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, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process

Function(s)

beta-N-acetylhexosaminidase activity
hexosaminidase activity