Hs02412681_cn

• Gene Symbol: LOC101929372
• Assay Reference Genome Location: Chr.22:17587960 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 101929372
• Gene Name: uncharacterized LOC101929372
• Gene Aliases: -
• Location: Chr.22:17580157-17589192 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101929372	NM_001288707.1	1	1233	NP_001275636.1

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: Overlaps Intron 9 - Exon 10

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			XP_011544451.1
	XM_011546150.2			XP_011544452.1
	XM_011546151.2			XP_011544453.1
	XM_011546152.1			XP_011544454.1
	XM_011546153.2			XP_011544455.1
	XM_011546154.2			XP_011544456.1
	XM_017028968.1			XP_016884457.1
	XM_017028969.1			XP_016884458.1
	XM_017028970.1			XP_016884459.1
	XM_017028971.1			XP_016884460.1
	XM_017028972.1			XP_016884461.1
	XM_017028973.1			XP_016884462.1
	XM_017028974.1			XP_016884463.1
	XM_017028975.1			XP_016884464.1
	AJ428203.1			CAD21008.1
	AK309110.1
	AY008285.1			AAG22855.1
	BC031644.1			AAH31644.1
	CR456578.1			CAG30464.1

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 CECR2 LOC101929372
nsv526826	Chr.22:17411511 - 17836413 on Build GRCh38	Gain	BCL2L13 SLC25A18 MICAL3 MIR3198-1 ATP6V1E1 BID CECR2 LINC00528 LOC101929372
nsv1065055	Chr.22:17559085 - 17632626 on Build GRCh38	Gain	BCL2L13 SLC25A18 ATP6V1E1 LOC101929372
dgv4464n100	Chr.22:17570790 - 17611340 on Build GRCh38	Gain	SLC25A18 ATP6V1E1 LOC101929372
esv3893428	Chr.22:17578563 - 18040448 on Build GRCh38	Loss	BCL2L13 SLC25A18 FLJ41941 MICAL3 MIR3198-1 ATP6V1E1 BID LINC00528 MIR648 LOC101929372
dgv4465n100	Chr.22:17577691 - 17706530 on Build GRCh38	Gain	BCL2L13 SLC25A18 ATP6V1E1 LOC101929372
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	USP18 PI4KAP1 TMEM191B CECR2 LOC100996432 LOC101929372 FAM230A RIMBP3 LOC642643 FLJ41941 MIR3198-1 ATP6V1E1 BCL2L13 MICAL3 TUBA8 PEX26 LOC102725072 SLC25A18 LOC100996401 LOC729461 BID GGT3P LINC00528 MIR648 LOC100996415
nsv510802	Chr.22:17550100 - 17604891 on Build GRCh38	Deletion	SLC25A18 ATP6V1E1 CECR2 LOC101929372
nsv3553	Chr.22:17553601 - 17608096 on Build GRCh38	Deletion	SLC25A18 ATP6V1E1 CECR2 LOC101929372
esv3568229	Chr.22:17574659 - 17596669 on Build GRCh38	Loss	SLC25A18 ATP6V1E1 LOC101929372
dgv1278e212	Chr.22:17586154 - 17598370 on Build GRCh38	Loss	SLC25A18 ATP6V1E1 LOC101929372

More Information

• Set Membership: Intragenic, Exonic, Non-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