Hs05380383_cn

• Gene Symbol: C15orf48
• Assay Reference Genome Location: Chr.15:45431638 on build GRCh38
• Cytoband: 15q21.1

Target Gene Details

• Entrez Gene ID: 84419
• Gene Name: chromosome 15 open reading frame 48
• Gene Aliases: FOAP-11, NMES1
• Location: Chr.15:45430529-45433449 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C15orf48	NM_032413.3			NP_115789.1
	NM_197955.2			NP_922946.1
	AB026707.1			BAB61021.1
	AF228422.1			AAK00708.1
	AK026298.1
	BC021173.2			AAH21173.1
	BM312626.1
	CA865860.1
	DB447060.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv469721	Chr.15:45316683 - 45495804 on Build GRCh38	Gain	LOC105376714 SPATA5L1 C15orf48 SLC30A4 MIR147B GATM
esv3892684	Chr.15:45307172 - 46327637 on Build GRCh38	Gain	SQRDL HMGN2P46 LOC105376714 SPATA5L1 C15orf48 LOC105370802 BLOC1S6 SLC30A4 MIR147B GATM
esv3569553	Chr.15:45366990 - 46080626 on Build GRCh38	Gain	SQRDL HMGN2P46 LOC105376714 SPATA5L1 C15orf48 LOC105370802 BLOC1S6 SLC30A4 MIR147B GATM
nsv1160292	Chr.15:45351161 - 46175480 on Build GRCh38	Duplication	SQRDL HMGN2P46 LOC105376714 SPATA5L1 C15orf48 LOC105370802 BLOC1S6 SLC30A4 MIR147B GATM
nsv569315	Chr.15:45153958 - 45480250 on Build GRCh38	Gain	SLC28A2 LOC105376714 SPATA5L1 C15orf48 SLC30A4 MIR147B LOC101928414 SHF DUOX1 GATM

More Information

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

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

oxidation-reduction process
hydrogen ion transmembrane transport

Function(s)

cytochrome-c oxidase activity
NADH dehydrogenase (ubiquinone) activity