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
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000393376.1 | AASS-003 | 3233 | 926aa | ENSP00000377040.1 | Protein coding | CCDS5783 | A4D0W4 Q9UDR5 | - | GENCODE basic, |
ENST00000417368.2 | AASS-001 | 3163 | 926aa | ENSP00000403768.2 | Protein coding | CCDS5783 | A4D0W4 Q9UDR5 | NM_005763.3 | 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 | - | CDS 5' incomplete, | |
ENST00000473553.1 | AASS-002 | 1816 | No protein | - | Processed transcript | - | - | - | |
ENST00000460376.1 | AASS-004 | 2331 | No protein | - | Retained intron | - | - | - |