Description
Shwachman-Bodian-Diamond syndrome [Source:HGNC Symbol;Acc:19440]
Gene Synonyms
CGI-97, FLJ10917, SDS, SWDS
Location
Chromosome 7: 66,452,664-66,460,588 reverse strand.
GRCh37:CM000669.1
About this gene
This gene has 4 transcripts (splice variants) and is associated with 40 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000246868.2 | SBDS-001 | 1631 | 250aa | ENSP00000246868.2 | Protein coding | CCDS5537 | Q9Y3A5 | NM_016038.2 | Ensembl Canonical, GENCODE basic, |
ENST00000414306.1 | SBDS-005 | 1531 | 86aa | ENSP00000394586.1 | Nonsense mediated decay | F8WE72 | - | - | |
ENST00000490953.1 | SBDS-004 | 841 | No protein | - | Retained intron | - | - | - | |
ENST00000463579.1 | SBDS-007 | 513 | No protein | - | Retained intron | - | - | - |