Hs05274705_cn

• Gene Symbol: HSD17B12
• Assay Reference Genome Location: Chr.11:43681403 on build GRCh38
• Cytoband: 11p11.2

Target Gene Details

• Entrez Gene ID: 51144
• Gene Name: hydroxysteroid 17-beta dehydrogenase 12
• Gene Aliases: KAR, SDR12C1
• Location: Chr.11:43680593-43856619 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HSD17B12	NM_016142.2			NP_057226.1
	XM_011520156.1			XP_011518458.1
	XM_017017881.1			XP_016873370.1
	AF078850.1			AAD44482.1
	AK074952.1
	AK075011.1
	AK075216.1
	AK222881.1			BAD96601.1
	AK292625.1
	AK301663.1
	BC012043.1			AAH12043.1
	BC012536.1			AAH12536.1
	BP359822.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1127177	Chr.11:43680144 - 43709194 on Build GRCh38	Deletion	HSD17B12

More Information

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

Gene Ontology Categories:

Process(es)

fatty acid biosynthetic process
steroid biosynthetic process
estrogen biosynthetic process
positive regulation of cell-substrate adhesion
extracellular matrix organization
long-chain fatty-acyl-CoA biosynthetic process
oxidation-reduction process

Function(s)

fibronectin binding
estradiol 17-beta-dehydrogenase activity
protein binding
collagen binding
heparin binding
long-chain-3-hydroxyacyl-CoA dehydrogenase activity
3-oxo-arachidoyl-CoA reductase activity
3-oxo-behenoyl-CoA reductase activity
3-oxo-lignoceroyl-CoA reductase activity