Hs01594990_cn

• Gene Symbol: KDSR
• Assay Reference Genome Location: Chr.18:63331402 on build GRCh38
• Cytoband: 18q21.33

Target Gene Details

• Entrez Gene ID: 2531
• Gene Name: 3-ketodihydrosphingosine reductase
• Gene Aliases: DHSR, FVT1, SDR35C1
• Location: Chr.18:63327736-63367273 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KDSR	NM_002035.2	10	1534	NP_002026.1
	XM_005266677.2	9	1399	XP_005266734.1
	XM_017025690.1	10	1739	XP_016881179.1
	AK025120.1	10	1467
	AK126679.1	4	2807
	X63657.1	10	1486	CAA45197.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv577096	Chr.18:63311353 - 63347135 on Build GRCh38	Loss	KDSR BCL2
nsv1066552	Chr.18:63147299 - 64608176 on Build GRCh38	Gain	SERPINB12 SERPINB3 SERPINB13 SERPINB11 LINC00305 LINC01538 SERPINB2 SERPINB5 SERPINB7 KDSR SERPINB10 BCL2 HMSD VPS4B SERPINB8 LOC284294 SERPINB4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

3-keto-sphinganine metabolic process
sphingolipid biosynthetic process
oxidation-reduction process

Function(s)

3-dehydrosphinganine reductase activity