Hs00874984_cn

• Gene Symbol: CYB5D1
• Assay Reference Genome Location: Chr.17:7857812 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 124637
• Gene Name: cytochrome b5 domain containing 1
• Gene Aliases: -
• Location: Chr.17:7857746-7864417 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYB5D1	NM_144607.4	1	67	NP_653208.2
	AK057061.1	1	67	BAB71357.1

Target Gene Details

• Entrez Gene ID: 84316
• Gene Name: N(alpha)-acetyltransferase 38, NatC auxiliary subunit
• Gene Aliases: LSMD1, PFAAP2
• Location: Chr.17:7856685-7885465 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NAA38	NM_001320924.1	1	80	NP_001307853.1
	NM_001320925.1	1	80	NP_001307854.1
	NM_032356.4	1	80	NP_115732.2
	XM_011524037.2			XP_011522339.1
	XM_017025225.1			XP_016880714.1
	XM_017025226.1			XP_016880715.1
	BC033861.1	1	43	AAH33861.1
	BC051846.1	1	80	AAH51846.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv510n67	Chr.17:7852429 - 7911448 on Build GRCh38	Gain	KDM6B SCARNA21 TMEM88 CHD3 NAA38 CYB5D1
nsv833351	Chr.17:7755691 - 7893863 on Build GRCh38	Loss	KDM6B TMEM88 CHD3 NAA38 CYB5D1 DNAH2

More Information

Additional Information:

For this assay, SNP(s) [rs150998226] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

negative regulation of apoptotic process

Function(s)

metal ion binding
protein binding