Description

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

Synonyms

SUTAL

Location

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

GRCh38:CM000665.2

About this gene

This gene has 7 transcripts (splice variants), 64 orthologues, is a member of 1 Ensembl protein family and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HPS3-001ENST0000029605146651004aaENSP00000296051
 
Protein coding
CCDS3140Q969F9 NM_032383
NP_115759
TSL:1GENCODE basicAPPRIS P1
HPS3-003ENST000004601202745839aaENSP00000418230
 
Protein coding
CCDS77836G5E9V4 NM_001308258
NP_001295187
TSL:2GENCODE basic
HPS3-005ENST000004608221958266aaENSP00000419824
 
Nonsense mediated decay
-H7C5G2 -CDS 5' incompleteTSL:2
HPS3-006ENST00000494327556No protein-
 
Processed transcript
---TSL:3
HPS3-002ENST000004620302486No protein-
 
Retained intron
---TSL:2
HPS3-004ENST000004865301894No protein-
 
Retained intron
---TSL:5
HPS3-007ENST00000478525601No protein-
 
Retained intron
---TSL:3

Gene-based displays