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
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000296051.2 | HPS3-001 | 4665 | 1004aa | ENSP00000296051.2 | Protein coding | CCDS3140 | Q8N3N1 Q969F9 | NM_032383.3 | GENCODE basic, |
ENST00000460120.1 | HPS3-003 | 2745 | 839aa | ENSP00000418230.1 | Protein coding | G5E9V4 Q8N3N1 | - | GENCODE basic, | |
ENST00000460822.1 | HPS3-005 | 1958 | 266aa | ENSP00000419824.1 | Nonsense mediated decay | H7C5G2 | - | CDS 5' incomplete, | |
ENST00000494327.1 | HPS3-006 | 556 | No protein | - | Processed transcript | - | - | - | |
ENST00000462030.1 | HPS3-002 | 2486 | No protein | - | Retained intron | - | - | - | |
ENST00000486530.1 | HPS3-004 | 1894 | No protein | - | Retained intron | - | - | - | |
ENST00000478525.1 | HPS3-007 | 601 | No protein | - | Retained intron | - | - | - |