Hs01057218_cn

• Gene Symbol: SLC25A23
• Assay Reference Genome Location: Chr.19:6441865 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 79085
• Gene Name: solute carrier family 25 member 23
• Gene Aliases: APC2, MCSC2, SCaMC-3
• Location: Chr.19:6436081-6460221 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC25A23	NM_024103.2	10	1659	NP_077008.2
	XM_011528274.1			XP_011526576.1
	XM_011528275.1			XP_011526577.1
	XM_011528276.1			XP_011526578.1
	XM_011528277.1			XP_011526579.1
	XM_011528278.1			XP_011526580.1
	XM_011528279.1			XP_011526581.1
	XM_011528280.1			XP_011526582.1
	XM_011528281.1	11	2251	XP_011526583.1
	XM_011528282.1			XP_011526584.1
	XM_011528283.1			XP_011526585.1
	XM_011528284.1			XP_011526586.1
	XM_011528285.1	10	2083	XP_011526587.1
	XM_017027285.1			XP_016882774.1
	XM_017027286.1			XP_016882775.1
	XM_017027287.1			XP_016882776.1
	XM_017027288.1			XP_016882777.1
	XM_017027289.1	9	1975	XP_016882778.1
	XM_017027290.1	9	1942	XP_016882779.1
	XM_017027291.1	8	1834	XP_016882780.1
	XM_017027292.1			XP_016882781.1
	AJ619962.1	10	1614	CAF04059.1
	AJ619988.1			CAF04494.1
	AJ879080.1			CAI51682.1
	AJ879081.1			CAI51683.1
	AJ879082.1			CAI51684.1
	AJ879083.1			CAI51685.1
	AK027562.1	1	130
	AK054901.1	9	1356	BAB70825.1
	AK074579.1	5	781	BAC11071.1
	AK294514.1	10	1517
	AK295484.1	5	819
	AW379976.1	1	214
	AY750170.1	10	1624	AAU95077.1
	BC001656.1			AAH01656.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2017710	Chr.19:6441587 - 6442042 on Build GRCh38	Deletion	SLC25A23
nsv833727	Chr.19:6400101 - 6568241 on Build GRCh38	Loss	SLC25A23 TNFSF9 LOC390877 SLC25A41 KHSRP DENND1C TUBB4A MIR3940 CRB3
esv2718065	Chr.19:6441562 - 6442041 on Build GRCh38	Deletion	SLC25A23

More Information

Additional Information:

For this assay, SNP(s) [rs140865515] 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 -

mitochondrial carrier protein

Gene Ontology Categories:

Process(es)

regulation of oxidative phosphorylation
translation
mitochondrial calcium ion transport
calcium ion transmembrane import into mitochondrion
regulation of cellular respiration
regulation of sequestering of calcium ion
adenine nucleotide transport
cellular response to calcium ion
urea homeostasis

Function(s)

structural constituent of ribosome
calcium ion binding
protein binding