Product Details

Assay Reference Genome
Location

Chr.X:53434335 on build GRCh38
Cytoband
Xp11.22
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
3028
Gene Symbol
HSD17B10
Gene Name
hydroxysteroid 17-beta dehydrogenase 10
Gene Aliases
17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1
Location
Chr.X:53431258-53434376 on build GRCh38
Assay Gene Location
Overlaps - Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HSD17B10 NM_001037811.2 NP_001032900.1
NM_004493.2 NP_004484.1
AF035555.2 AAC15902.1
AF069134.1 AAC39900.1
AU132847.1
BC000372.2 AAH00372.1
BC008708.1 AAH08708.1
CR456723.1 CAG33004.1
KU178107.1
KU178108.1
U73514.1 AAB68958.1
U96132.1 AAC51812.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2740175 ChrX:52862926 - 55652533 on Build GRCh38 Deletion LOC100421746 IQSEC2 MIR4536-2 PAGE2 MAGEH1 MIR6894 USP51 SNORA109 APEX2 PHF8 ALAS2 FAM104B MIR4536-1 FOXR2 XAGE3 WNK3 TSPYL2 GPR173 MIR6857 MIR98 FAM120C KDM5C MIR6895 MIRLET7F2 PAGE2B PAGE3 RIBC1 PAGE5 MAGED2 FAM156B KANTR TSR2 MTRNR2L10 SNORA11 HUWE1 HSD17B10 SMC1A TRO FGD1 FAM156A PFKFB1 ITIH6 GNL3L
nsv435891 ChrX:52861979 - 55653313 on Build GRCh38 Deletion LOC100421746 IQSEC2 MIR4536-2 PAGE2 MAGEH1 MIR6894 USP51 SNORA109 APEX2 PHF8 ALAS2 FAM104B MIR4536-1 FOXR2 XAGE3 WNK3 TSPYL2 GPR173 MIR6857 MIR98 FAM120C KDM5C MIR6895 MIRLET7F2 PAGE2B PAGE3 RIBC1 PAGE5 MAGED2 FAM156B KANTR TSR2 MTRNR2L10 SNORA11 HUWE1 HSD17B10 SMC1A TRO FGD1 FAM156A PFKFB1 ITIH6 GNL3L
nsv6908 ChrX:53412544 - 53446505 on Build GRCh38 Insertion HSD17B10 RIBC1 SMC1A

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