Hs02934496_cn

• Gene Symbol: HSD17B1
• Assay Reference Genome Location: Chr.17:42553467 on build GRCh38
• Cytoband: 17q21.2

Target Gene Details

• Entrez Gene ID: 3292
• Gene Name: hydroxysteroid 17-beta dehydrogenase 1
• Gene Aliases: EDH17B2, EDHB17, HSD17, SDR28C1
• Location: Chr.17:42551966-42555214 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HSD17B1	NM_000413.2			NP_000404.2
	XM_005257292.3			XP_005257349.1
	XM_006721857.3			XP_006721920.1
	XM_006721858.3			XP_006721921.1
	XM_006721859.3			XP_006721922.1
	XM_011524729.1			XP_011523031.1
	XM_011524730.1			XP_011523032.1
	XM_011524731.1			XP_011523033.1
	XM_011524732.2			XP_011523034.1
	AK127832.1
	AK300143.1	2	452
	AK300159.1
	AK300452.1
	AK316292.1
	BC033110.1	1	70	AAH33110.1
	BC104752.1			AAI04753.1
	BC111935.1			AAI11936.1
	DQ469954.1
	M36263.1			AAA35600.1
	X13440.1			CAA31792.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3640608	Chr.17:42549950 - 42556643 on Build GRCh38	Loss	HSD17B1
nsv1064012	Chr.17:42427786 - 42606703 on Build GRCh38	Gain	MIR5010 FAM134C COASY MLX NAGLU PSMC3IP HSD17B1 ATP6V0A1 MIR548AT
esv30001	Chr.17:42543879 - 42560687 on Build GRCh38	Loss	NAGLU HSD17B1
nsv111876	Chr.17:42549496 - 42555722 on Build GRCh38	Deletion	HSD17B1
nsv960106	Chr.17:42549814 - 42556265 on Build GRCh38	Duplication	HSD17B1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

steroid biosynthetic process
estrogen biosynthetic process
estrogen metabolic process
oxidation-reduction process
bone development
testosterone biosynthetic process
cellular response to metal ion

Function(s)

catalytic activity
estradiol 17-beta-dehydrogenase activity
testosterone dehydrogenase (NAD+) activity