Hs01496831_cn

• Gene Symbol: LSS
• Assay Reference Genome Location: Chr.21:46191125 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 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LSS	NM_001001438.2	22	2257	NP_001001438.1
	NM_001145436.1	22	2224	NP_001138908.1
	NM_001145437.1	21	2389	NP_001138909.1
	NM_002340.5	22	2257	NP_002331.3
	XM_011529564.2	22	2283	XP_011527866.1
	XM_011529565.1	22	2283	XP_011527867.1
	XM_011529566.2	22	2204	XP_011527868.1
	XM_011529567.2	21	2187	XP_011527869.1
	XM_017028346.1	22	2253	XP_016883835.1
	XM_017028347.1	22	2174	XP_016883836.1
	XM_017028348.1	21	2187	XP_016883837.1
	AK092334.1	3	1607	BAC03865.1
	AK096769.1	2	1994	BAC04859.1
	AK098352.1			BAC05289.1
	AK226141.1	21	2302
	AK296313.1	22	2181
	AK312489.1
	BC035638.1	22	2220	AAH35638.1
	BU728696.1	2	439
	D63807.1	22	2196	BAA09875.1
	S81221.1	22	2196	AAB36220.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2338420	Chr.21:46189668 - 46191124 on Build GRCh38	Deletion	LSS
nsv519904	Chr.21:46163592 - 46461396 on Build GRCh38	Loss	LSS MCM3AP-AS1 YBEY C21orf58 PCNT DIP2A SPATC1L MCM3AP
nsv1061087	Chr.21:46056174 - 46223305 on Build GRCh38	Loss	LSS FTCD COL6A2 SPATC1L
nsv509804	Chr.21:45879599 - 46235140 on Build GRCh38	Insertion	LSS COL6A1 PCBP3 FTCD MCM3AP-AS1 LOC101928796 COL6A2 SPATC1L MCM3AP
nsv1062031	Chr.21:46188666 - 46223305 on Build GRCh38	Gain	LSS
nsv470910	Chr.21:45933861 - 46665076 on Build GRCh38	Gain	DIP2A-IT1 LSS COL6A1 FTCD PRMT2 MCM3AP-AS1 YBEY C21orf58 S100B COL6A2 PCBP3 LOC101928796 PCNT DIP2A SPATC1L MCM3AP
esv2587417	Chr.21:46188898 - 46191269 on Build GRCh38	Deletion	LSS
nsv1060978	Chr.21:46068159 - 46413726 on Build GRCh38	Gain	LSS FTCD MCM3AP-AS1 YBEY C21orf58 PCNT COL6A2 SPATC1L MCM3AP
esv3647164	Chr.21:46189814 - 46191090 on Build GRCh38	Loss	LSS

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