Description
phenylalanine hydroxylase [Source:HGNC Symbol;Acc:8582]
Gene Synonyms
PH, PKU, PKU1
Location
Chromosome 12: 103,230,663-103,352,188 reverse strand.
GRCh37:CM000674.1
About this gene
This gene has 15 transcripts (splice variants), 3 paralogues and is associated with 7 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000553106.1 | PAH-001 | 4122 | 452aa | ENSP00000448059.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9092 | F8W0A0 F8W1D4 P00439 | NM_000277.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000307000.2 | PAH-002 | 2469 | 447aa | ENSP00000303500.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KND8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000546844.1 | PAH-009 | 705 | 117aa | ENSP00000446658.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W1D4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000551337.1 | PAH-005 | 675 | 136aa | ENSP00000447620.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W0A0 F8W1D4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000551988.1 | PAH-013 | 584 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000552251.1 | PAH-006 | 553 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000546708.1 | PAH-007 | 546 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000548928.1 | PAH-011 | 472 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000547319.1 | PAH-004 | 397 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000548677.1 | PAH-010 | 371 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000549111.1 | PAH-003 | 1252 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000549247.1 | PAH-014 | 958 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000551114.1 | PAH-015 | 793 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000550405.1 | PAH-008 | 625 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000550978.1 | PAH-012 | 601 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
