Hs02183168_cn

• Gene Symbol: SPTLC2
• Assay Reference Genome Location: Chr.14:77509513 on build GRCh38
• Cytoband: 14q24.3

Target Gene Details

• Entrez Gene ID: 9517
• Gene Name: serine palmitoyltransferase long chain base subunit 2
• Gene Aliases: HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a
• Location: Chr.14:77505997-77616767 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPTLC2	NM_004863.3	12	4648	NP_004854.1
	AB011098.1	12	4648
	BG024616.1	1	395

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832835	Chr.14:77440363 - 77628864 on Build GRCh38	Gain	ISM2 AHSA1 SPTLC2 VIPAS39

More Information

Additional Information:

For this assay, SNP(s) [rs140918232] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transaminase

Gene Ontology Categories:

Process(es)

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
pyridoxal phosphate binding