Hs02748129_cn

• Gene Symbol: LSS
• Assay Reference Genome Location: Chr.21:46188597 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 4047
• Gene Name: lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
• Gene Aliases: CTRCT44, OSC
• Location: Chr.21:46188446-46228824 on Build GRCh38
• Assay Gene Location: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LSS	NM_001001438.2	23	2541	NP_001001438.1
	XM_011529565.1	23	2557	XP_011527867.1
	XM_017028346.1	23	2527	XP_016883835.1
	XM_017028347.1	23	2448	XP_016883836.1
	XM_017028348.1	22	2461	XP_016883837.1
	AK096769.1	3	2268	BAC04859.1
	BU728696.1	1	165
	D63807.1	23	2480	BAA09875.1
	S81221.1	23	2480	AAB36220.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519904	Chr.21:46163592 - 46461396 on Build GRCh38	Loss	DIP2A MCM3AP-AS1 C21orf58 LSS MCM3AP PCNT SPATC1L YBEY
nsv1061087	Chr.21:46056174 - 46223305 on Build GRCh38	Loss	LSS COL6A2 SPATC1L FTCD
nsv509804	Chr.21:45879599 - 46235140 on Build GRCh38	Insertion	MCM3AP-AS1 LSS MCM3AP COL6A2 LOC101928796 COL6A1 PCBP3 SPATC1L FTCD
nsv470910	Chr.21:45933861 - 46665076 on Build GRCh38	Gain	DIP2A MCM3AP-AS1 C21orf58 PRMT2 PCNT COL6A2 LOC101928796 PCBP3 DIP2A-IT1 LSS MCM3AP S100B COL6A1 SPATC1L YBEY FTCD
nsv1060978	Chr.21:46068159 - 46413726 on Build GRCh38	Gain	MCM3AP-AS1 C21orf58 LSS MCM3AP PCNT COL6A2 SPATC1L YBEY FTCD

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cyclase

Gene Ontology Categories:

Process(es)

steroid biosynthetic process
cholesterol biosynthetic process
regulation of protein stability

Function(s)

lanosterol synthase activity