Hs01749995_cn

• Gene Symbol: SLC25A18
• Assay Reference Genome Location: Chr.22:17563501 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 83733
• Gene Name: solute carrier family 25 member 18
• Gene Aliases: GC2
• Location: Chr.22:17562470-17590890 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC25A18	NM_001303484.1			NP_001290413.1
	NM_031481.2			NP_113669.1
	XM_011546149.2	1	1003	XP_011544451.1
	XM_011546150.2	1	1005	XP_011544452.1
	XM_011546153.2	1	1005	XP_011544455.1
	XM_017028969.1	1	999	XP_016884458.1
	XM_017028970.1	1	999	XP_016884459.1
	XM_017028971.1	1	999	XP_016884460.1
	XM_017028972.1	1	999	XP_016884461.1
	XM_017028973.1	1	999	XP_016884462.1
	XM_017028974.1	1	999	XP_016884463.1
	XM_017028975.1	1	999	XP_016884464.1
	AJ428203.1			CAD21008.1
	AK308974.1
	AY008285.1			AAG22855.1
	BC031644.1			AAH31644.1
	DA354203.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9871	Chr.22:17545048 - 17683541 on Build GRCh38	Loss	BCL2L13 SLC25A18 ATP6V1E1 LOC101929372 CECR2
nsv526826	Chr.22:17411511 - 17836413 on Build GRCh38	Gain	LINC00528 MIR3198-1 BCL2L13 MICAL3 BID SLC25A18 ATP6V1E1 LOC101929372 CECR2
nsv1065055	Chr.22:17559085 - 17632626 on Build GRCh38	Gain	BCL2L13 SLC25A18 ATP6V1E1 LOC101929372
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	USP18 TMEM191B RIMBP3 FAM230A LOC100996401 LOC101929372 TUBA8 PEX26 MIR3198-1 MICAL3 FLJ41941 LOC102725072 MIR648 GGT3P LOC100996415 BCL2L13 SLC25A18 LOC100996432 LOC729461 PI4KAP1 LINC00528 BID ATP6V1E1 LOC642643 CECR2
nsv510802	Chr.22:17550100 - 17604891 on Build GRCh38	Deletion	SLC25A18 ATP6V1E1 LOC101929372 CECR2
nsv3553	Chr.22:17553601 - 17608096 on Build GRCh38	Deletion	SLC25A18 ATP6V1E1 LOC101929372 CECR2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter, secondary carrier transporter

Gene Ontology Categories:

Process(es)

translation
transmembrane transport

Function(s)

structural constituent of ribosome
protein binding
symporter activity