Hs07184580_cn

• Gene Symbol: SPTLC3
• Assay Reference Genome Location: Chr.20:13106199 on build GRCh38
• Cytoband: 20p12.1

Target Gene Details

• Entrez Gene ID: 55304
• Gene Name: serine palmitoyltransferase long chain base subunit 3
• Gene Aliases: C20orf38, LCB2B, LCB3, SPT3, SPTLC2L, dJ718P11, dJ718P11.1, hLCB2b
• Location: Chr.20:13008979-13169103 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPTLC3	NM_018327.2			NP_060797.2
	XM_011529279.1			XP_011527581.1
	XM_011529280.2			XP_011527582.1
	AK300184.1
	AL844429.1
	BC150644.1
	CX870585.1

Target Gene Details

• Entrez Gene ID: 55617
• Gene Name: taspase 1
• Gene Aliases: C20orf13, dJ585I14.2
• Location: Chr.20:13104760-13638936 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TASP1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833924	Chr.20:13016445 - 13208592 on Build GRCh38	Gain	SPTLC3 TASP1
dgv4247n100	Chr.20:12748832 - 13357690 on Build GRCh38	Gain	ISM1 ISM1-AS1 LOC101929486 SPTLC3 LOC102606466 LOC100505515 TASP1
esv3893288	Chr.20:12763161 - 13331336 on Build GRCh38	Gain	ISM1 ISM1-AS1 LOC101929486 SPTLC3 LOC102606466 LOC100505515 TASP1

More Information

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

Panther Classification:

Molecular Function -

transaminase

Gene Ontology Categories:

Process(es)

sphingolipid biosynthetic process
sphingoid biosynthetic process

Function(s)

serine C-palmitoyltransferase activity
pyridoxal phosphate binding