Hs02189411_cn

• Gene Symbol: LSS
• Assay Reference Genome Location: Chr.21:46188777 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	2361	NP_001001438.1
	XM_011529565.1	23	2377	XP_011527867.1
	XM_017028346.1	23	2347	XP_016883835.1
	XM_017028347.1	23	2268	XP_016883836.1
	XM_017028348.1	22	2281	XP_016883837.1
	AK096769.1	3	2088	BAC04859.1
	BU728696.1	1	345
	D63807.1	23	2300	BAA09875.1
	S81221.1	23	2300	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	MCM3AP-AS1 MCM3AP PCNT YBEY C21orf58 LSS SPATC1L DIP2A
nsv1061087	Chr.21:46056174 - 46223305 on Build GRCh38	Loss	FTCD LSS SPATC1L COL6A2
nsv509804	Chr.21:45879599 - 46235140 on Build GRCh38	Insertion	MCM3AP-AS1 FTCD MCM3AP LOC101928796 PCBP3 COL6A1 LSS SPATC1L COL6A2
nsv1062031	Chr.21:46188666 - 46223305 on Build GRCh38	Gain	LSS
nsv470910	Chr.21:45933861 - 46665076 on Build GRCh38	Gain	PCBP3 S100B YBEY DIP2A-IT1 COL6A2 MCM3AP-AS1 FTCD MCM3AP PCNT LOC101928796 COL6A1 C21orf58 LSS PRMT2 SPATC1L DIP2A
nsv1060978	Chr.21:46068159 - 46413726 on Build GRCh38	Gain	MCM3AP-AS1 FTCD MCM3AP PCNT YBEY C21orf58 LSS SPATC1L COL6A2

More Information

Additional Information:

For this assay, SNP(s) [rs76408279] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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