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Description

Hermansky-Pudlak syndrome 3

Synonyms

SUTAL, BLOC2S1

Location

Chromosome 3: 149,129,584-149,173,732 forward strand.

VEGA65:CM000665.2

About this gene

This gene has 7 transcripts (splice variants) and 1 orthologue.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtFlags
HPS3-001OTTHUMT0000035615146651004aaOTTHUMP00000215796
 
Protein coding
CCDS3140Q969F9
HPS3-003OTTHUMT000003561532745839aaOTTHUMP00000215797
 
Protein coding
CCDS77836-
HPS3-005OTTHUMT000003561551958266aaOTTHUMP00000215798
 
Nonsense mediated decay
--CDS 5' incomplete
HPS3-006OTTHUMT00000356156556No protein-
 
Processed transcript
--
HPS3-002OTTHUMT000003561522486No protein-
 
Retained intron
--
HPS3-004OTTHUMT000003561541894No protein-
 
Retained intron
--
HPS3-007OTTHUMT00000356157601No protein-
 
Retained intron
--

Gene-based displays