Hs04014061_cn

• Gene Symbol: MPV17L2
• Assay Reference Genome Location: Chr.19:18193365 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 84769
• Gene Name: MPV17 mitochondrial inner membrane protein like 2
• Gene Aliases: FKSG24
• Location: Chr.19:18193230-18196742 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MPV17L2	NM_032683.2	1	136	NP_116072.2
	AF320622.1	1	114	AAL30173.1
	AF416712.1	1	107	AAL16806.1
	AK094091.1	1	95
	BC005064.1	1	126	AAH05064.1
	BC093008.1	1	136	AAH93008.1
	BG740168.1	1	136

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv576n67	Chr.19:18178788 - 18200792 on Build GRCh38	Gain	MPV17L2 RAB3A
nsv1160592	Chr.19:18100050 - 18194768 on Build GRCh38	Deletion	PIK3R2 IFI30 MAST3 MPV17L2
nsv952420	Chr.19:18117791 - 18476990 on Build GRCh38	Deletion	KIAA1683 MIR3188 ISYNA1 PDE4C MIR3189 RAB3A JUND LOC102725254 LRRC25 PIK3R2 LSM4 LOC729966 IFI30 MAST3 GDF15 MPV17L2 SSBP4 PGPEP1 ELL
esv3643834	Chr.19:18192120 - 18200529 on Build GRCh38	Gain	MPV17L2 RAB3A
nsv833775	Chr.19:18102951 - 18279264 on Build GRCh38	Loss	KIAA1683 PIK3R2 LOC729966 IFI30 MAST3 PDE4C MPV17L2 RAB3A LOC102725254
nsv819691	Chr.19:18183343 - 18201465 on Build GRCh38	Gain	MPV17L2 RAB3A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

mitochondrial ribosome assembly
positive regulation of mitochondrial translation