Hs03920307_cn

• Gene Symbol: MPV17L
• Assay Reference Genome Location: Chr.16:15397764 on build GRCh38
• Cytoband: 16p13.11

Target Gene Details

• Entrez Gene ID: 255027
• Gene Name: MPV17 mitochondrial inner membrane protein like
• Gene Aliases: M-LPH, MLPH1, MLPH2, MPV17L1
• Location: Chr.16:15395569-15409686 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MPV17L	NM_001128423.1			NP_001121895.1
	NM_173803.3			NP_776164.2
	XM_017023108.1			XP_016878597.1
	AK096918.1			BAC04895.1
	AK293380.1
	BC061514.1			AAH61514.1
	DQ004255.1			AAY58892.1
	DQ004256.1			AAY58893.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833146	Chr.16:15315189 - 15424025 on Build GRCh38	Gain	NPIPA5 MPV17L
nsv435664	Chr.16:15247194 - 18197960 on Build GRCh38	Deletion	PKD1P1 NOMO3 MIR3179-2 MIR484 PKD1P2 KIAA0430 MIR3180-2 ABCC1 MIR6506 XYLT1 ABCC6 MIR6770-2 MIR6511A3 MIR3670-2 NDE1 NPIPA7 NPIPA5 FOPNL C16orf45 LOC102723692 MIR6511A2 MPV17L MYH11
nsv833145	Chr.16:15201100 - 15406308 on Build GRCh38	Gain	NPIPA5 MPV17L
nsv1047898	Chr.16:15388065 - 18284986 on Build GRCh38	Loss	PKD1P1 NOMO3 MIR3179-2 MIR484 PKD1P2 KIAA0430 MIR3180-2 ABCC1 MIR6506 XYLT1 ABCC6 MIR6770-2 MIR6511A3 MIR3670-2 NDE1 NPIPA7 FOPNL C16orf45 LOC102723692 MIR6511A2 MPV17L MYH11
nsv457428	Chr.16:15386022 - 18071186 on Build GRCh38	Gain	PKD1P1 NOMO3 MIR3179-2 MIR484 PKD1P2 KIAA0430 MIR3180-2 ABCC1 MIR6506 XYLT1 ABCC6 MIR6770-2 MIR6511A3 MIR3670-2 NDE1 NPIPA7 FOPNL C16orf45 LOC102723692 MIR6511A2 MPV17L MYH11
nsv1125134	Chr.16:15180201 - 18091718 on Build GRCh38	Deletion	PKD1P1 NOMO3 MIR3179-2 MIR484 PKD1P2 KIAA0430 MIR3180-2 ABCC1 MIR6506 XYLT1 ABCC6 MIR6770-2 MIR6511A3 MIR3670-2 NDE1 NPIPA7 NPIPA5 FOPNL C16orf45 LOC102723692 MIR6511A2 MPV17L MYH11
dgv2755n100	Chr.16:14877546 - 15434384 on Build GRCh38	Gain	MIR3179-1 MIR3180-1 MIR6511A1 MIR6511B2 MIR6770-1 MIR3670-1 MIR1972-1 LOC728138 NPIPA1 LOC100505915 NOMO1 RRN3 NTAN1 MIR3180-4 NPIPA5 PKD1P6-NPIPP1 LOC100288162 MPV17L PDXDC1
nsv1741	Chr.16:15387639 - 15416844 on Build GRCh38	Insertion	MPV17L
nsv1045440	Chr.16:15184949 - 15455900 on Build GRCh38	Gain	NPIPA5 C16orf45 MPV17L
nsv1038151	Chr.16:15165037 - 15407242 on Build GRCh38	Loss	NPIPA5 MPV17L
nsv977121	Chr.16:15382257 - 15408442 on Build GRCh38	Duplication	MPV17L
esv2714015	Chr.16:15292092 - 18247911 on Build GRCh38	Deletion	PKD1P1 NOMO3 MIR3179-2 MIR484 PKD1P2 KIAA0430 MIR3180-2 ABCC1 MIR6506 XYLT1 ABCC6 MIR6770-2 MIR6511A3 MIR3670-2 NDE1 NPIPA7 NPIPA5 FOPNL C16orf45 LOC102723692 MIR6511A2 MPV17L MYH11

More Information

Additional Information:

For this assay, SNP(s) [rs77886718] 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

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

negative regulation of hydrogen peroxide biosynthetic process
negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway

Function(s)

molecular_function
receptor binding