Description
phenylalanine hydroxylase [Source:HGNC Symbol;Acc:8582]
Gene Synonyms
PH, PKU, PKU1
Location
Chromosome 12: 103,230,663-103,311,381 reverse strand.
About this transcript
This transcript has 13 exons, is annotated with 18 domains and features, is associated with 36591 variant alleles and maps to 646 oligo probes.
Gene
This transcript is a product of gene ENSG00000171759.4 Show transcript tableHide transcript table
| 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 | - | - | - |