Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000246868.2SBDS-0011631250aaENSP00000246868.2
 
Protein coding
CCDS5537Q9Y3A5 NM_016038.2GENCODE basic
ENST00000414306.1SBDS-005153186aaENSP00000394586.1
 
Nonsense mediated decay
F8WE72 --
ENST00000490953.1SBDS-004841No protein-
 
Retained intron
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ENST00000463579.1SBDS-007513No protein-
 
Retained intron
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