Name: [Hs00336139_cn] [ATP5S]
Creator: Thermo Fisher Scientific
Keywords: [ATP5S] Assay, [ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B)] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	27109
Gene Name:	ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B)
Gene Aliases:	ATPW, FB, HSU79253
Location:	Chr.14:50311752-50326715 on Build GRCh38
Assay Gene Location:	Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP5S	XM_017021220.1			XP_016876709.1

Target Gene Details

Entrez Gene ID:	79944
Gene Name:	L-2-hydroxyglutarate dehydrogenase
Gene Aliases:	C14orf160, L2HGA
Location:	Chr.14:50242434-50312235 on Build GRCh38
Assay Gene Location:	Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
L2HGDH	NM_024884.2	1	108	NP_079160.1
	XM_005268075.4	1	108	XP_005268132.1
	XM_011537166.2	1	72	XP_011535468.1
	XM_017021656.1	1	114	XP_016877145.1
	XM_017021657.1			XP_016877146.1
	XM_017021658.1	1	108	XP_016877147.1
	AK022680.1	1	108	BAB14174.1
	AK292627.1	1	108
	AK309294.1	1	105
	AY757363.1			AAV52330.1
	BC006117.1			AAH06117.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv564835	Chr.14:50024482 - 50439753 on Build GRCh38	Gain	VCPKMT ATP5S L2HGDH MIR4504 SOS2 MAP4K5 CDKL1 LINC01599
nsv832793	Chr.14:50294245 - 50470857 on Build GRCh38	Loss	ATP5S L2HGDH MIR4504 MAP4K5 CDKL1
nsv1052059	Chr.14:50291535 - 50364621 on Build GRCh38	Loss	ATP5S L2HGDH MIR4504 CDKL1
esv28926	Chr.14:49426970 - 50475809 on Build GRCh38	Gain+Loss	LINC01588 L2HGDH MIR4504 RPL36AL POLE2 LOC100506446 RN7SL2 RN7SL1 CDKL1 LOC100288910 KLHDC2 DNAAF2 VCPKMT ATP5S MIR6076 MGAT2 SOS2 RPS29 MAP4K5 ARF6 NEMF KLHDC1 LRR1 LINC01599