Hs05746620_cn

• Gene Symbol: PARS2
• Assay Reference Genome Location: Chr.1:54759287 on build GRCh38
• Cytoband: 1p32.3

Target Gene Details

• Entrez Gene ID: 25973
• Gene Name: prolyl-tRNA synthetase 2, mitochondrial (putative)
• Gene Aliases: MT-PRORS, proRS
• Location: Chr.1:54756898-54764553 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PARS2	NM_152268.3			NP_689481.2
	AK289679.1
	BC011758.2			AAH11758.2
	DB004072.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1004778	Chr.1:54635180 - 54764639 on Build GRCh38	Gain	MROH7 MROH7-TTC4 TTC4 PARS2
dgv166n100	Chr.1:54741809 - 54804866 on Build GRCh38	Gain	MROH7-TTC4 TTC4 TTC22 PARS2
nsv1000673	Chr.1:54630765 - 54818045 on Build GRCh38	Gain	MROH7 MROH7-TTC4 ACOT11 TTC4 LEXM TTC22 PARS2
nsv546266	Chr.1:54404143 - 54887697 on Build GRCh38	Gain	MROH7 DHCR24 MROH7-TTC4 ACOT11 TTC4 LEXM SSBP3 FAM151A TTC22 PARS2
dgv38e212	Chr.1:54627539 - 54817638 on Build GRCh38	Gain	MROH7 MROH7-TTC4 ACOT11 TTC4 LEXM TTC22 PARS2
nsv817614	Chr.1:54580862 - 55735351 on Build GRCh38	Gain	MROH7 DHCR24 MROH7-TTC4 ACOT11 BSND FAM151A TTC22 PCSK9 PARS2 MIR4422 USP24 LOC100507634 TMEM61 TTC4 LEXM

More Information

Additional Information:

For this assay, SNP(s) [rs115011613,rs74339968] 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 -

aminoacyl-tRNA synthetase

Gene Ontology Categories:

Process(es)

prolyl-tRNA aminoacylation

Function(s)

RNA binding
proline-tRNA ligase activity
ATP binding