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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: PTDSS1 ENSG00000156471

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Description

phosphatidylserine synthase 1 [Source:HGNC Symbol;Acc:9587]

Gene Synonyms

KIAA0024, PSS1, PSSA

Location

Chromosome 8: 97,273,943-97,349,223 forward strand.

GRCh37:CM000670.1

About this gene

This gene has 7 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
ENST00000517309.1	PTDSS1-001	5177	473aa	ENSP00000430548.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6271	P48651 Q9BUQ5	NM_014754.1	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,
ENST00000455950.2	PTDSS1-201	2360	327aa	ENSP00000401248.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9BUQ5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000522072.1	PTDSS1-003	1112	301aa	ENSP00000430928.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DE85	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000337004.4	PTDSS1-002	2366	108aa	ENSP00000337331.4	Nonsense mediated decay		J3KNR6	-	-
ENST00000518776.1	PTDSS1-004	766	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000517982.1	PTDSS1-006	1215	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000517557.1	PTDSS1-005	757	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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Summary

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