Human (GRCh37.p13)
Description

6-pyruvoyltetrahydropterin synthase [Source:HGNC Symbol;Acc:9689]

Gene Synonyms

PTPS

Location

Chromosome 11: 112,097,088-112,140,678 forward strand.

GRCh37:CM000673.1

About this gene

This gene has 9 transcripts (splice variants) and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000280362.3PTS-001935145aaENSP00000280362.3
 
Protein coding
CCDS8359E9PNN3 Q03393 NM_000317.2GENCODE basic
ENST00000524931.1PTS-00869677aaENSP00000434688.1
 
Protein coding
E9PNN3 -GENCODE basic
ENST00000525803.1PTS-00562561aaENSP00000431750.1
 
Protein coding
E9PJM0 -GENCODE basic
ENST00000531673.1PTS-00298655aaENSP00000433469.1
 
Nonsense mediated decay
E9PKY8 --
ENST00000528679.1PTS-00484655aaENSP00000435895.1
 
Nonsense mediated decay
E9PKY8 --
ENST00000525645.1PTS-0031069No protein-
 
Retained intron
---
ENST00000527428.1PTS-006646No protein-
 
Retained intron
---
ENST00000527635.1PTS-007601No protein-
 
Retained intron
---
ENST00000531175.1PTS-009430No protein-
 
Retained intron
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