Hs04936761_cn

• Gene Symbol: C7orf55-LUC7L2
• Assay Reference Genome Location: Chr.7:139341795 on build GRCh38
• Cytoband: 7q34

Target Gene Details

• Entrez Gene ID: 100996928
• Gene Name: C7orf55-LUC7L2 readthrough
• Gene Aliases: -
• Location: Chr.7:139341132-139423457 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C7orf55-LUC7L2	NM_001244584.2			NP_001231513.1
	AK297642.1

Target Gene Details

• Entrez Gene ID: 154791
• Gene Name: formation of mitochondrial complex V assembly factor 1 homolog
• Gene Aliases: C7orf55, HSPC268
• Location: Chr.7:139340450-139346319 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FMC1	NM_197964.4			NP_932068.2
	NR_073058.1
	NR_073059.1
	NR_073060.1
	AA393224.1
	AA620996.1
	AF161386.1			AAF28946.1
	AK093018.1	1	433
	BC008467.1			AAH08467.1
	BI117784.1
	BM672187.1
	BU852633.1
	CB125801.1

Target Gene Details

• Entrez Gene ID: 51631
• Gene Name: LUC7 like 2, pre-mRNA splicing factor
• Gene Aliases: CGI-59, CGI-74, LUC7B2
• Location: Chr.7:139340359-139423457 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LUC7L2	NM_001244585.1			NP_001231514.1
	AK298166.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2735212	Chr.7:138060002 - 140415947 on Build GRCh38	Deletion	RAB19 SVOPL C7orf55-LUC7L2 JHDM1D-AS1 FMC1 UBN2 TTC26 HIPK2 ZC3HAV1 LOC105375531 LOC100129148 LUC7L2 SLC37A3 PARP12 ATP6V0A4 TBXAS1 TRIM24 MIR4468 KDM7A CLEC2L KLRG2 AKR1D1 LOC105375532 ZC3HAV1L TMEM213 KIAA1549

More Information

Additional Information:

For this assay, SNP(s) [rs116523410] 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)

mRNA splice site selection

Function(s)

mRNA binding
protein binding
enzyme binding
poly(A) RNA binding