Hs03823569_cn

• Gene Symbol: SMCO2
• Assay Reference Genome Location: Chr.12:27473763 on build GRCh38
• Cytoband: 12p11.23

Target Gene Details

• Entrez Gene ID: 341346
• Gene Name: single-pass membrane protein with coiled-coil domains 2
• Gene Aliases: C12orf70
• Location: Chr.12:27446482-27506911 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMCO2	NM_001145010.1			NP_001138482.1
	XM_011520634.2			XP_011518936.1
	XM_011520635.2			XP_011518937.1
	XM_011520636.2			XP_011518938.1
	XM_017019254.1			XP_016874743.1
	XM_017019255.1			XP_016874744.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv523517	Chr.12:27472954 - 27481277 on Build GRCh38	Gain	SMCO2
dgv1406n100	Chr.12:27128236 - 27640822 on Build GRCh38	Gain	STK38L PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1
dgv2417n54	Chr.12:27068022 - 27638988 on Build GRCh38	Gain	STK38L PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1 C12orf71
nsv436825	Chr.12:27135971 - 27642579 on Build GRCh38	Insertion	STK38L PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1
esv2745664	Chr.12:27017516 - 27820117 on Build GRCh38	Deletion	REP15 STK38L PPFIBP1 MED21 ARNTL2 SMCO2 ARNTL2-AS1 MANSC4 MRPS35 KLHL42 C12orf71
esv3628940	Chr.12:27451350 - 27631744 on Build GRCh38	Gain	PPFIBP1 SMCO2
nsv521872	Chr.12:27114021 - 27635541 on Build GRCh38	Gain	STK38L PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1
dgv271e199	Chr.12:27089700 - 27631451 on Build GRCh38	Deletion	STK38L PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1

More Information

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