Hs07516695_cn

• Gene Symbol: SLC25A53
• Assay Reference Genome Location: Chr.X:104114657 on build GRCh38
• Cytoband: Xq22.2

Target Gene Details

• Entrez Gene ID: 401612
• Gene Name: solute carrier family 25 member 53
• Gene Aliases: MCART6
• Location: Chr.X:104099214-104157027 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC25A53	NM_001012755.4			NP_001012773.2
	AL833609.1

Target Gene Details

• Entrez Gene ID: 644353
• Gene Name: zinc finger CCHC-type containing 18
• Gene Aliases: PNMA7B, SIZN2
• Location: Chr.X:104112416-104121330 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZCCHC18	NM_001143978.2	3	1752	NP_001137450.1
	NR_026694.2
	XM_011531012.2	3	1889	XP_011529314.1
	CN272796.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv469772	Chr.X:103928672 - 104131003 on Build GRCh38	Gain	ZCCHC18 H2BFWT H2BFM LOC100101478 SLC25A53 LOC286437 TMSB15B H2BFXP
esv2758880	Chr.X:103827471 - 104210380 on Build GRCh38	Gain	ZCCHC18 H2BFWT H2BFM LL0XNC01-116E7.2 LOC100101478 SLC25A53 LOC286437 RAB9B FAM199X TMSB15B H2BFXP
nsv519626	Chr.X:103933493 - 104158390 on Build GRCh38	Gain	ZCCHC18 H2BFWT H2BFM LOC100101478 SLC25A53 LOC286437 FAM199X TMSB15B H2BFXP

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

translation
transport
BMP signaling pathway

Function(s)

structural constituent of ribosome
ligand-dependent nuclear receptor transcription coactivator activity
metal ion binding