SBDS gene homepage

General information
Gene symbol SBDS
Gene name SBDS ribosome maturation factor
Chromosome 7
Chromosomal band q11.21
Imprinted Unknown
Genomic reference LRG_104
Transcript reference NM_016038.2
Associated with diseases AplAn, SDS1
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 163
Unique public DNA variants reported 31
Individuals with public variants 132
Hidden variants 0
Date created May 20, 2020
Date last updated October 19, 2020
Version SBDS:201019

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 19440
Entrez Gene 51119
PubMed articles SBDS
OMIM - Gene 607444
OMIM - Diseases AplAn (Aplastic anemia)
SDS1 (Shwachman-Diamond syndrome)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000192 7 Shwachman-Bodian-Diamond syndrome NM_016038.2 NP_057122.2 163

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