Hs00353830_cn

• Gene Symbol: SLC25A30
• Assay Reference Genome Location: Chr.13:45401199 on build GRCh38
• Cytoband: 13q14.13

Target Gene Details

• Entrez Gene ID: 253512
• Gene Name: solute carrier family 25 member 30
• Gene Aliases: KMCP1
• Location: Chr.13:45393316-45434016 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC25A30	NM_001010875.3			NP_001010875.1
	NM_001286806.1			NP_001273735.1
	NM_001286807.1			NP_001273736.1
	XM_005266321.2			XP_005266378.1
	XM_005266322.1			XP_005266379.1
	XM_006719793.3			XP_006719856.1
	XM_006719794.1			XP_006719857.1
	XM_011535026.1			XP_011533328.1
	XM_011535027.2			XP_011533329.1
	XM_017020523.1			XP_016876012.1
	XM_017020524.1			XP_016876013.1
	AK094133.1
	AK095465.1
	AK302967.1
	AL832206.1
	BC132739.1
	BC136760.1
	DA184634.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv223e201	Chr.13:45377870 - 46464067 on Build GRCh38	Deletion	KIAA0226L LRRC63 COG3 ERICH6B SIAH3 SLC25A30 LCP1 SPERT SLC25A30-AS1 ZC3H13 TPT1-AS1 CPB2-AS1 LINC00563 CPB2 LINC01055 LINC01198
nsv510579	Chr.13:45305226 - 45424938 on Build GRCh38	Deletion	TPT1 SLC25A30-AS1 TPT1-AS1 SNORA31 SLC25A30
esv3631956	Chr.13:45391109 - 45405451 on Build GRCh38	Loss	TPT1-AS1 SLC25A30

More Information

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

Panther Classification:

Molecular Function -

transporter, secondary carrier transporter

Gene Ontology Categories:

Process(es)

translation
mitochondrial transport
biological_process

Function(s)

molecular_function
structural constituent of ribosome