Hs01110529_cn

• Gene Symbol: MPV17L2
• Assay Reference Genome Location: Chr.19:18195080 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: Overlaps Exon 4 - Intron 4

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

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	RAB3A MPV17L2
nsv952420	Chr.19:18117791 - 18476990 on Build GRCh38	Deletion	LOC102725254 ISYNA1 LRRC25 KIAA1683 LSM4 ELL MIR3189 MIR3188 JUND PGPEP1 LOC729966 IFI30 GDF15 RAB3A SSBP4 MPV17L2 PDE4C PIK3R2 MAST3
esv3643834	Chr.19:18192120 - 18200529 on Build GRCh38	Gain	RAB3A MPV17L2
nsv833775	Chr.19:18102951 - 18279264 on Build GRCh38	Loss	LOC102725254 KIAA1683 IFI30 RAB3A MPV17L2 PDE4C LOC729966 PIK3R2 MAST3
nsv819691	Chr.19:18183343 - 18201465 on Build GRCh38	Gain	RAB3A MPV17L2

More Information

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

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

mitochondrial ribosome assembly
positive regulation of mitochondrial translation