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Human (GRCh37.p13)
Description

homogentisate 1,2-dioxygenase [Source:HGNC Symbol;Acc:4892]

Gene Synonyms

AKU, HGO

Location

Chromosome 3: 120,347,020-120,401,418 reverse strand.

GRCh37:CM000665.1

About this gene

This gene has 10 transcripts (splice variants) and is associated with 2 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000283871.5HGD-0012005445aaENSP00000283871.5
 
Protein coding
CCDS3000B3KW64 Q93099 NM_000187.3Ensembl CanonicalGENCODE basic
ENST00000494453.1HGD-006683145aaENSP00000419163.1
 
Protein coding
--CDS 5' incomplete
ENST00000475447.2HGD-00556588aaENSP00000417977.2
 
Protein coding
--CDS 5' incomplete
ENST00000476082.2HGD-010462142aaENSP00000419560.2
 
Protein coding
C9JTX9 -CDS 3' incomplete
ENST00000492108.1HGD-00963198aaENSP00000419838.1
 
Nonsense mediated decay
H7C5G7 -CDS 5' incomplete
ENST00000488183.1HGD-003572No protein-
 
Processed transcript
---
ENST00000485313.1HGD-007528No protein-
 
Processed transcript
---
ENST00000480862.1HGD-002656No protein-
 
Retained intron
---
ENST00000470321.1HGD-004528No protein-
 
Retained intron
---
ENST00000466528.1HGD-008444No protein-
 
Retained intron
---