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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: Cellular component
- GO: Molecular function
- GO: Biological process
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	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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