SI gene homepage

General information
Gene symbol SI
Gene name sucrase-isomaltase (alpha-glucosidase)
Chromosome 3
Chromosomal band q25.2-q26.2
Imprinted Not imprinted
Genomic reference NG_017043.1
Transcript reference NM_001041.3
Exon/intron information NM_001041.3 exon/intron table
Associated with diseases sucrase-isomaltase deficiency, congenital (CSID)
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 27
Unique public DNA variants reported 26
Individuals with public variants 129
Hidden variants 0
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated December 28, 2014
Version SI:141228

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001041.3.
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
Homepage URL
HGNC 10856
Entrez Gene 6476
PubMed articles SI
OMIM - Gene 609845
OMIM - Diseases sucrase-isomaltase deficiency, congenital (CSID)
GeneCards SI
GeneTests SI

Active transcripts




NCBI ID     

NCBI Protein ID     

00018902 3 sucrase-isomaltase (alpha-glucosidase) NM_001041.3 NP_001032.2 27

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.