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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
- GO: Biological process
- GO: Molecular function
- GO: Cellular component
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: HPS3 ENSG00000163755

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Description

Hermansky-Pudlak syndrome 3 [Source:HGNC Symbol;Acc:15597]

Gene Synonyms

SUTAL

Location

Chromosome 3: 148,847,371-148,891,519 forward strand.

GRCh37:CM000665.1

About this gene

This gene has 7 transcripts (splice variants) and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000296051.2	HPS3-001	4665	1004aa	ENSP00000296051.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3140	Q8N3N1 Q969F9	NM_032383.3	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,
ENST00000460120.1	HPS3-003	2745	839aa	ENSP00000418230.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G5E9V4 Q8N3N1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000460822.1	HPS3-005	1958	266aa	ENSP00000419824.1	Nonsense mediated decay		H7C5G2	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000494327.1	HPS3-006	556	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000462030.1	HPS3-002	2486	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000486530.1	HPS3-004	1894	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000478525.1	HPS3-007	601	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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