Hs00856689_cn

• Gene Symbol: SLC25A30
• Assay Reference Genome Location: Chr.13:45395923 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: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC25A30	NM_001010875.3	10	1138	NP_001010875.1
	NM_001286806.1	9	1019	NP_001273735.1
	NM_001286807.1	10	1196	NP_001273736.1
	XM_005266321.2	9	1286	XP_005266378.1
	XM_011535027.2	9	915	XP_011533329.1
	XM_017020524.1	10	1188	XP_016876013.1
	AK094133.1	10	1065
	AK095465.1	9	918
	AK302967.1	9	946
	AL832206.1	4	3434
	BC132739.1
	BC136760.1

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	TPT1-AS1 ZC3H13 SLC25A30-AS1 LINC01198 LINC01055 CPB2-AS1 ERICH6B KIAA0226L LRRC63 SLC25A30 CPB2 SIAH3 LINC00563 LCP1 SPERT COG3
nsv510579	Chr.13:45305226 - 45424938 on Build GRCh38	Deletion	TPT1-AS1 SLC25A30-AS1 SLC25A30 TPT1 SNORA31
esv3631956	Chr.13:45391109 - 45405451 on Build GRCh38	Loss	TPT1-AS1 SLC25A30

More Information

• Set Membership: Intragenic, 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