EnsemblEnsembl Home
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 46 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
SBDS-001ENST00000246868.21631250aaENSP00000246868.2
 
Protein coding
CCDS5537Q9Y3A5 NM_016038
NP_057122
GENCODE basic
SBDS-005ENST00000414306.1153186aaENSP00000394586.1
 
Nonsense mediated decay
-F8WE72 --
SBDS-004ENST00000490953.1841No protein-
 
Retained intron
----
SBDS-007ENST00000463579.1513No protein-
 
Retained intron
----

Gene-based displays