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 http://www.LOVD.nl/SI
HGNC 10856
Entrez Gene 6476
PubMed articles SI
OMIM - Gene 609845
OMIM - Diseases sucrase-isomaltase deficiency, congenital (CSID)
HGMD SI
GeneCards SI
GeneTests SI


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

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


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