Hs03293645_cn

• Gene Symbol: SMCO2
• Assay Reference Genome Location: Chr.12:27491041 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 7

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
nsv1052330	Chr.12:27482662 - 27506809 on Build GRCh38	Gain	SMCO2
dgv1406n100	Chr.12:27128236 - 27640822 on Build GRCh38	Gain	PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1 STK38L
dgv2417n54	Chr.12:27068022 - 27638988 on Build GRCh38	Gain	C12orf71 PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1 STK38L
nsv436825	Chr.12:27135971 - 27642579 on Build GRCh38	Insertion	PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1 STK38L
nsv651	Chr.12:27490207 - 27520451 on Build GRCh38	Deletion	SMCO2
dgv24e203	Chr.12:27487981 - 27506821 on Build GRCh38	Loss	SMCO2
dgv36n17	Chr.12:27486051 - 27506870 on Build GRCh38	Loss	SMCO2
esv2745664	Chr.12:27017516 - 27820117 on Build GRCh38	Deletion	C12orf71 PPFIBP1 ARNTL2 MRPS35 KLHL42 MANSC4 SMCO2 MED21 REP15 ARNTL2-AS1 STK38L
nsv437732	Chr.12:27475809 - 27502467 on Build GRCh38	Loss	SMCO2
esv3628940	Chr.12:27451350 - 27631744 on Build GRCh38	Gain	PPFIBP1 SMCO2
nsv521872	Chr.12:27114021 - 27635541 on Build GRCh38	Gain	PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1 STK38L
dgv271e199	Chr.12:27089700 - 27631451 on Build GRCh38	Deletion	PPFIBP1 ARNTL2 SMCO2 ARNTL2-AS1 STK38L

More Information

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