Product Details

Assay Reference Genome
Location

Chr.X:53431281 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 - Exon 6
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
BC000372.2 AAH00372.1
BC008708.1 AAH08708.1
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 XAGE3 RIBC1 MIRLET7F2 SNORA109 GPR173 PHF8 HSD17B10 MAGED2 MIR6857 TSR2 FAM104B TSPYL2 ALAS2 USP51 MAGEH1 MIR6895 MTRNR2L10 FAM120C ITIH6 KDM5C TRO HUWE1 FAM156B PAGE2 FAM156A SMC1A FGD1 MIR98 PAGE3 LOC100421746 MIR4536-1 SNORA11 APEX2 IQSEC2 PAGE2B WNK3 FOXR2 KANTR MIR4536-2 PFKFB1 PAGE5 MIR6894 GNL3L
nsv435891 ChrX:52861979 - 55653313 on Build GRCh38 Deletion XAGE3 RIBC1 MIRLET7F2 SNORA109 GPR173 PHF8 HSD17B10 MAGED2 MIR6857 TSR2 FAM104B TSPYL2 ALAS2 USP51 MAGEH1 MIR6895 MTRNR2L10 FAM120C ITIH6 KDM5C TRO HUWE1 FAM156B PAGE2 FAM156A SMC1A FGD1 MIR98 PAGE3 LOC100421746 MIR4536-1 SNORA11 APEX2 IQSEC2 PAGE2B WNK3 FOXR2 KANTR MIR4536-2 PFKFB1 PAGE5 MIR6894 GNL3L
nsv6908 ChrX:53412544 - 53446505 on Build GRCh38 Insertion RIBC1 SMC1A HSD17B10

View Full Product Details