Transcript: ENST00000307000.2 PAH-002

Description

phenylalanine hydroxylase [Source:HGNC Symbol;Acc:8582]

Gene Synonyms

PH, PKU, PKU1

Location

Chromosome 12: 103,232,099-103,311,032 reverse strand.

About this transcript

This transcript has 14 exons, is annotated with 18 domains and features, is associated with 35848 variant alleles and maps to 546 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		-	-	-

Summary

Statistics

Exons: 14, Coding exons: 13, Transcript length: 2,469 bps, Translation length: 447 residues

Version

ENST00000307000.2

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000406693 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Favourite species

All species

Recent locations

Transcript: ENST00000307000.2 PAH-002

Summary