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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	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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