Hs02249702_cn

• Gene Symbol: SPTLC1
• Assay Reference Genome Location: Chr.9:92032260 on build GRCh38
• Cytoband: 9q22.31

Target Gene Details

• Entrez Gene ID: 10558
• Gene Name: serine palmitoyltransferase long chain base subunit 1
• Gene Aliases: HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI
• Location: Chr.9:92031134-92115474 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPTLC1	NM_001281303.1	15	1699	NP_001268232.1
	NM_006415.3	15	1731	NP_006406.1
	XM_011518139.2	15	1715	XP_011516441.1
	XM_017014200.1	16	1776	XP_016869689.1
	XM_017014201.1	16	1848	XP_016869690.1
	XM_017014202.1	11	1909	XP_016869691.1
	AK098344.1	4	451
	BC068537.1	15	1603	AAH68537.1
	Y08685.1			CAA69941.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831653	Chr.9:91930172 - 92105260 on Build GRCh38	Gain	SPTLC1 ROR2
nsv1046733	Chr.9:91928340 - 92376282 on Build GRCh38	Gain	NOL8 IARS LOC100128076 SNORA84 LINC00475 CENPP SPTLC1 ROR2 MIR3651

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transaminase

Gene Ontology Categories:

Process(es)

sphingolipid metabolic process
sphingomyelin biosynthetic process
sphingolipid biosynthetic process
sphinganine biosynthetic process
sphingosine biosynthetic process
ceramide biosynthetic process
positive regulation of lipophagy

Function(s)

serine C-palmitoyltransferase activity
protein binding
pyridoxal phosphate binding