Hs03409748_cn

• Gene Symbol: PTCD3
• Assay Reference Genome Location: Chr.2:86115864 on build GRCh38
• Cytoband: 2p11.2

Target Gene Details

• Entrez Gene ID: 55037
• Gene Name: pentatricopeptide repeat domain 3
• Gene Aliases: MRP-S39
• Location: Chr.2:86106182-86142157 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTCD3	NM_017952.5			NP_060422.4
	AK293962.1
	BC011832.2			AAH11832.3
	BI825315.1
	DA479719.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv458563	Chr.2:86065218 - 86280565 on Build GRCh38	Gain	SNORD94 PTCD3 IMMT MRPL35 POLR1A REEP1 MIR4779
dgv3885n100	Chr.2:86054844 - 86279009 on Build GRCh38	Gain	SNORD94 PTCD3 IMMT MRPL35 POLR1A REEP1 MIR4779
dgv712e214	Chr.2:86054752 - 86165643 on Build GRCh38	Gain	SNORD94 PTCD3 IMMT POLR1A
esv2751903	Chr.2:86026419 - 86278330 on Build GRCh38	Gain	SNORD94 PTCD3 IMMT MRPL35 POLR1A REEP1 MIR4779
esv3591540	Chr.2:86055590 - 86283809 on Build GRCh38	Gain	SNORD94 PTCD3 IMMT MRPL35 POLR1A REEP1 MIR4779

More Information

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

Gene Ontology Categories:

Process(es)

regulation of translation
mitochondrial translation
mitochondrial translational elongation
mitochondrial translational termination

Function(s)

protein binding
rRNA binding
ribosomal small subunit binding
poly(A) RNA binding