Hs04084112_cn

• Gene Symbol: LOC101929372
• Assay Reference Genome Location: Chr.22:17584037 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101929372	NM_001288707.1			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: Within Intron 8

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	ATP6V1E1 BCL2L13 SLC25A18 CECR2 LOC101929372
nsv526826	Chr.22:17411511 - 17836413 on Build GRCh38	Gain	LINC00528 ATP6V1E1 BCL2L13 SLC25A18 BID CECR2 MIR3198-1 MICAL3 LOC101929372
nsv1065055	Chr.22:17559085 - 17632626 on Build GRCh38	Gain	ATP6V1E1 BCL2L13 SLC25A18 LOC101929372
dgv4464n100	Chr.22:17570790 - 17611340 on Build GRCh38	Gain	ATP6V1E1 SLC25A18 LOC101929372
esv3893428	Chr.22:17578563 - 18040448 on Build GRCh38	Loss	FLJ41941 LINC00528 ATP6V1E1 BCL2L13 MIR648 SLC25A18 BID MIR3198-1 MICAL3 LOC101929372
dgv4465n100	Chr.22:17577691 - 17706530 on Build GRCh38	Gain	ATP6V1E1 BCL2L13 SLC25A18 LOC101929372
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	PEX26 PI4KAP1 RIMBP3 BCL2L13 LOC100996401 LOC100996415 USP18 FLJ41941 LOC100996432 LOC729461 MIR648 SLC25A18 CECR2 TMEM191B MICAL3 FAM230A BID MIR3198-1 LOC101929372 GGT3P LINC00528 LOC102725072 TUBA8 ATP6V1E1 LOC642643
nsv510802	Chr.22:17550100 - 17604891 on Build GRCh38	Deletion	ATP6V1E1 SLC25A18 CECR2 LOC101929372
nsv3553	Chr.22:17553601 - 17608096 on Build GRCh38	Deletion	ATP6V1E1 SLC25A18 CECR2 LOC101929372
esv3568229	Chr.22:17574659 - 17596669 on Build GRCh38	Loss	ATP6V1E1 SLC25A18 LOC101929372
esv2657458	Chr.22:17583664 - 17586671 on Build GRCh38	Deletion	SLC25A18 LOC101929372
esv3647225	Chr.22:17583610 - 17586518 on Build GRCh38	Loss	SLC25A18 LOC101929372

More Information

• Set Membership: Intragenic, Intronic, 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