- databases for immunodeficiency-causing mutations

   SBDSbase
   Mutation registry for  Shwachman-Diamond syndrome



Other resources

OMIM resources



SBDS Reference Sequences
Sequence type Accession number Description
Genomic sequence IDRefSeq: D0076
 The reference sequence was derived from Ensembl Human sequence AC044839.16.1.142323.
mRNA IDRefSeq: C0076
 Homo sapiens Shwachman-Bodian-Diamond syndrome protein mRNA, complete cds.
Amino Acid Sequence Q9Y3A5 Shwachman-Bodian-Diamond syndrome protein (CGI-97).

This site is updated by Jouni Väliaho
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Last modified 16.06.2011