ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:223
Internal ref. ID:1117a
Submitter name:JIANG WEI
Entry date:28-SEP-2004 14:58:45
Modification date:28-SEP-2004 15:06:34
 
Regulatory sequence name:pcca: propionyl coenzyme a carboxylase, alpha polypeptide(intron2)
Entry type:Exon silencer
Sequence origin:Intronic
Organism:Homo sapiens, human
Binding factors:
 
EMBL/Genbank/DDBJ/RefSeq Accession number:NM_000282
Ensembl ID:ENSG00000175198
AEdb ID:
Sequence:AATGTG
Mutated regulatory sequence:
 
Methods:Natural ocurring mutant
Keywords:propionic acidemia,pcca,pccb,mutations
 
Citation line:Perez, B.; Desviat, L. R.; Rodriguez-Pombo, P.; Clavero, S.; Navarrete, R.; Perez-Cerda, C.; Ugarte, M.(2003)"Propionic acidemia: identification of twenty-four novel mutations in Europe and North America"Mol Genet Metab. 2003 Jan;78(1):59-67.
PubMed ID:12559849
 
Comments:The "tg" after "aa" is deleted.
(activated in workbench):Y
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