Hs05381727_cn

• Gene Symbol: EMC7
• Assay Reference Genome Location: Chr.15:34089523 on build GRCh38
• Cytoband: 15q14

Target Gene Details

• Entrez Gene ID: 56851
• Gene Name: ER membrane protein complex subunit 7
• Gene Aliases: C11orf3, C15orf24, HT022, ORF1-FL1
• Location: Chr.15:34084022-34101852 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EMC7	NM_020154.2			NP_064539.1
	AF242729.1			AAG44477.1
	AJ245874.1			CAC01611.1
	AJ250344.1			CAB96539.1
	AK314883.1
	AY358445.1			AAQ88810.1
	BC012456.1			AAH12456.1
	BC104934.1			AAI04935.1
	BC104936.1			AAI04937.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv471235	Chr.15:33743328 - 34129750 on Build GRCh38	Gain	CHRM5 AVEN RYR3 PGBD4 EMC7
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	GOLGA8B CHRM5 GOLGA8A SCG5 FMN1 RYR3 LOC100131315 GREM1 LPCAT4 SLC12A6 MIR1233-2 NOP10 LOC101928134 ARHGAP11A KATNBL1 AVEN MIR1233-1 LOC101928042 PGBD4 EMC7 LOC105370757 EMC4 NUTM1 TMCO5B
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	GOLGA8N CHRM5 GOLGA8A FMN1 GREM1 LPCAT4 MIR1233-2 CHRNA7 KATNBL1 LOC101928042 PGBD4 ULK4P1 EMC4 LOC105370940 TMCO5B LOC101060588 GOLGA8O GOLGA8B SCG5 RYR3 LOC100131315 SLC12A6 WHAMMP1 GOLGA8K NOP10 LOC100653133 LOC101928134 ARHGAP11A LOC100996255 AVEN MIR1233-1 EMC7 LOC105370757 NUTM1
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	GOLGA8B CHRM5 LOC101928174 GOLGA8A RYR3 LPCAT4 SLC12A6 MIR1233-2 NOP10 ACTC1 KATNBL1 AVEN ZNF770 MIR1233-1 PGBD4 GJD2 EMC7 EMC4 NUTM1 AQR
nsv568920	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	CHRM5 AVEN RYR3 PGBD4 EMC7
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	GOLGA8N CHRM5 GOLGA8A FMN1 GREM1 LPCAT4 MIR1233-2 KATNBL1 LOC101928042 PGBD4 EMC4 TMCO5B GOLGA8B SCG5 RYR3 LOC100131315 SLC12A6 NOP10 LOC101928134 ARHGAP11A AVEN MIR1233-1 EMC7 LOC105370757 NUTM1

More Information

Additional Information:

For this assay, SNP(s) [rs72720714] 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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

carbohydrate binding