Hs06354024_cn

• Gene Symbol: PYROXD1
• Assay Reference Genome Location: Chr.12:21460057 on build GRCh38
• Cytoband: 12p12.1

Target Gene Details

• Entrez Gene ID: 79912
• Gene Name: pyridine nucleotide-disulphide oxidoreductase domain 1
• Gene Aliases: -
• Location: Chr.12:21437604-21471250 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PYROXD1	NM_024854.3			NP_079130.2
	XM_017019976.1			XP_016875465.1
	AK025681.1			BAB15214.1
	AK125461.1
	AK293820.1
	AK307710.1
	AL832441.1			CAH10632.1
	BC021662.1			AAH21662.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv557741	Chr.12:21425625 - 22016920 on Build GRCh38	Gain	ABCC9 GYS2 LDHB PYROXD1 KCNJ8 SPX GOLT1B RECQL
esv3628807	Chr.12:21421601 - 21463902 on Build GRCh38	Gain	PYROXD1
nsv1054220	Chr.12:21459224 - 21539169 on Build GRCh38	Gain	GYS2 PYROXD1 SPX GOLT1B RECQL

More Information

Additional Information:

For this assay, SNP(s) [rs75975580] 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 -

oxidoreductase

Gene Ontology Categories:

Process(es)

oxidation-reduction process

Function(s)

protein binding
oxidoreductase activity