Gene: SPTLC2 ENSG00000100596

Description

serine palmitoyltransferase, long chain base subunit 2 [Source:HGNC Symbol;Acc:11278]

Gene Synonyms

HSN1C, KIAA0526, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a

Location

Chromosome 14: 77,972,340-78,083,116 reverse strand.

GRCh37:CM000676.1

About this gene

This gene has 6 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000216484.2	SPTLC2-001	8170	562aa	ENSP00000216484.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9865	O15270	NM_004863.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000554901.1	SPTLC2-002	1518	407aa	ENSP00000452189.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000556607.1	SPTLC2-005	460	40aa	ENSP00000451029.1	Nonsense mediated decay		H0YJ96	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000556264.1	SPTLC2-006	263	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000554365.1	SPTLC2-004	604	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000557566.1	SPTLC2-003	510	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: SPTLC2 ENSG00000100596

Summary

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Gene: SPTLC2 ENSG00000100596

Summary