Hs03293873_cn

• Gene Symbol: SMCO2
• Assay Reference Genome Location: Chr.12:27496182 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 9

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_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
esv2421622	Chr.12:27494808 - 27501613 on Build GRCh38	Deletion	SMCO2
dgv2417n54	Chr.12:27068022 - 27638988 on Build GRCh38	Gain	ARNTL2 PPFIBP1 SMCO2 STK38L ARNTL2-AS1 C12orf71
nsv498784	Chr.12:27495209 - 27502232 on Build GRCh38	Loss	SMCO2
dgv36n17	Chr.12:27486051 - 27506870 on Build GRCh38	Loss	SMCO2
nsv437732	Chr.12:27475809 - 27502467 on Build GRCh38	Loss	SMCO2
dgv271e199	Chr.12:27089700 - 27631451 on Build GRCh38	Deletion	ARNTL2 PPFIBP1 SMCO2 STK38L ARNTL2-AS1
esv3628942	Chr.12:27495241 - 27502269 on Build GRCh38	Gain	SMCO2
nsv8931	Chr.12:27495037 - 27502335 on Build GRCh38	Loss	SMCO2
dgv1407n100	Chr.12:27493041 - 27506809 on Build GRCh38	Loss	SMCO2
nsv983483	Chr.12:27494958 - 27501970 on Build GRCh38	Deletion	SMCO2
esv2759887	Chr.12:27495478 - 27498218 on Build GRCh38	Loss	SMCO2
esv2745664	Chr.12:27017516 - 27820117 on Build GRCh38	Deletion	MED21 ARNTL2 PPFIBP1 MRPS35 SMCO2 STK38L ARNTL2-AS1 REP15 MANSC4 C12orf71 KLHL42
dgv470e212	Chr.12:27493218 - 27506598 on Build GRCh38	Loss	SMCO2
dgv16n64	Chr.12:27493793 - 27501613 on Build GRCh38	Loss	SMCO2
esv3628940	Chr.12:27451350 - 27631744 on Build GRCh38	Gain	PPFIBP1 SMCO2
nsv514659	Chr.12:27495406 - 27502170 on Build GRCh38	Loss	SMCO2
esv3580202	Chr.12:27494795 - 27498337 on Build GRCh38	Loss	SMCO2
nsv1052330	Chr.12:27482662 - 27506809 on Build GRCh38	Gain	SMCO2
dgv1406n100	Chr.12:27128236 - 27640822 on Build GRCh38	Gain	ARNTL2 PPFIBP1 SMCO2 STK38L ARNTL2-AS1
esv28340	Chr.12:27495192 - 27502248 on Build GRCh38	Loss	SMCO2
nsv521872	Chr.12:27114021 - 27635541 on Build GRCh38	Gain	ARNTL2 PPFIBP1 SMCO2 STK38L ARNTL2-AS1
nsv438199	Chr.12:27495777 - 27500838 on Build GRCh38	Loss	SMCO2
esv3548928	Chr.12:27495068 - 27502567 on Build GRCh38	Deletion	SMCO2
nsv436825	Chr.12:27135971 - 27642579 on Build GRCh38	Insertion	ARNTL2 PPFIBP1 SMCO2 STK38L ARNTL2-AS1
esv2745668	Chr.12:27495215 - 27502220 on Build GRCh38	Deletion	SMCO2
nsv651	Chr.12:27490207 - 27520451 on Build GRCh38	Deletion	SMCO2
dgv24e203	Chr.12:27487981 - 27506821 on Build GRCh38	Loss	SMCO2

More Information

Additional Information:

For this assay, SNP(s) [rs117798780] 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, Intronic, Non-exonic, DGV Variation