Transcript: ENST00000296051.2 HPS3-001

Description

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

Gene Synonyms

SUTAL

Location

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

About this transcript

This transcript has 17 exons, is annotated with 5 domains and features, is associated with 18888 variant alleles and maps to 661 oligo probes.

Gene

This transcript is a product of gene ENSG00000163755.4 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		-	-	-

Summary

Statistics

Exons: 17, Coding exons: 17, Transcript length: 4,665 bps, Translation length: 1,004 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q969F9

CCDS

This transcript is a member of the Human CCDS set: CCDS3140

Version

ENST00000296051.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000356151 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Favourite species

All species

Recent locations

Transcript: ENST00000296051.2 HPS3-001

Summary