Product Details

Assay Reference Genome
Location

Chr.X:53432361 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 Exon 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HSD17B10 NM_001037811.2 3 274 NP_001032900.1
NM_004493.2 3 274 NP_004484.1
AF035555.2 3 279 AAC15902.1
AF069134.1 3 261 AAC39900.1
AU132847.1 3 274
AY092415.1 2 93 AAM18189.1
BC000372.2 3 258 AAH00372.1
BC008708.1 3 254 AAH08708.1
CR456723.1 3 243 CAG33004.1
KU178107.1 3 243
KU178108.1 3 243
U73514.1 3 258 AAB68958.1
U96132.1 3 270 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 HSD17B10 TSPYL2 FAM156A SNORA109 RIBC1 FAM104B PAGE2 USP51 KANTR LOC100421746 MTRNR2L10 PHF8 PFKFB1 PAGE2B MIR4536-2 MIR6895 HUWE1 MIR6894 XAGE3 WNK3 FGD1 KDM5C FAM120C APEX2 SNORA11 IQSEC2 PAGE5 MAGED2 TSR2 MIR98 TRO ALAS2 GNL3L ITIH6 FOXR2 MIR6857 MIR4536-1 MIRLET7F2 FAM156B GPR173 MAGEH1 SMC1A
nsv435891 ChrX:52861979 - 55653313 on Build GRCh38 Deletion PAGE3 HSD17B10 TSPYL2 FAM156A SNORA109 RIBC1 FAM104B PAGE2 USP51 KANTR LOC100421746 MTRNR2L10 PHF8 PFKFB1 PAGE2B MIR4536-2 MIR6895 HUWE1 MIR6894 XAGE3 WNK3 FGD1 KDM5C FAM120C APEX2 SNORA11 IQSEC2 PAGE5 MAGED2 TSR2 MIR98 TRO ALAS2 GNL3L ITIH6 FOXR2 MIR6857 MIR4536-1 MIRLET7F2 FAM156B GPR173 MAGEH1 SMC1A
nsv6908 ChrX:53412544 - 53446505 on Build GRCh38 Insertion HSD17B10 RIBC1 SMC1A

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