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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: AASS ENSG00000008311

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Description

aminoadipate-semialdehyde synthase [Source:HGNC Symbol;Acc:17366]

Gene Synonyms

LKR/SDH, LKRSDH, LORSDH

Location

Chromosome 7: 121,715,701-121,784,334 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 7 transcripts (splice variants) and is associated with 5 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000393376.1	AASS-003	3233	926aa	ENSP00000377040.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5783	A4D0W4 Q9UDR5	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000417368.2	AASS-001	3163	926aa	ENSP00000403768.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5783	A4D0W4 Q9UDR5	NM_005763.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000358954.2	AASS-006	3126	732aa	ENSP00000351834.2	Nonsense mediated decay		F8WAH1	-	-
ENST00000431170.1	AASS-005	2922	511aa	ENSP00000414001.1	Nonsense mediated decay		F8WE53	-	-
ENST00000426162.1	AASS-007	722	21aa	ENSP00000394180.1	Nonsense mediated decay		H7C0C6	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000473553.1	AASS-002	1816	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000460376.1	AASS-004	2331	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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