Product Details

Assay Reference Genome
Location

Chr.X:53433591 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
Within Intron 2
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
AY092415.1 AAM18189.1
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 PAGE3 PAGE2B FGD1 PAGE2 PFKFB1 MIR6857 FOXR2 MTRNR2L10 GNL3L FAM120C SNORA109 MIR6895 FAM104B HSD17B10 SMC1A WNK3 USP51 PHF8 XAGE3 PAGE5 FAM156B KDM5C ALAS2 ITIH6 KANTR MIRLET7F2 MIR4536-2 MIR4536-1 MAGEH1 GPR173 MIR6894 LOC100421746 RIBC1 HUWE1 TSR2 APEX2 FAM156A MIR98 TSPYL2 MAGED2 IQSEC2 SNORA11 TRO
nsv435891 ChrX:52861979 - 55653313 on Build GRCh38 Deletion PAGE3 PAGE2B FGD1 PAGE2 PFKFB1 MIR6857 FOXR2 MTRNR2L10 GNL3L FAM120C SNORA109 MIR6895 FAM104B HSD17B10 SMC1A WNK3 USP51 PHF8 XAGE3 PAGE5 FAM156B KDM5C ALAS2 ITIH6 KANTR MIRLET7F2 MIR4536-2 MIR4536-1 MAGEH1 GPR173 MIR6894 LOC100421746 RIBC1 HUWE1 TSR2 APEX2 FAM156A MIR98 TSPYL2 MAGED2 IQSEC2 SNORA11 TRO
nsv6908 ChrX:53412544 - 53446505 on Build GRCh38 Insertion RIBC1 SMC1A HSD17B10

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