SI
From SNPedia
is a | gene |
is | mentioned by |
Full name | sucrase-isomaltase (alpha-glucosidase) |
EntrezGene | 6476 |
PheGenI | 6476 |
VariationViewer | 6476 |
ClinVar | SI |
GeneCards | SI |
dbSNP | 6476 |
Diseases | SI |
SADR | 6476 |
HugeNav | 6476 |
wikipedia | SI |
SI | |
gopubmed | SI |
EVS | SI |
HEFalMp | SI |
MyGene2 | SI |
23andMe | SI |
UniProt | P14410 |
Ensembl | ENSG00000090402 |
OMIM | 609845 |
# SNPs | 12 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs121912611 | 0 | 165,019,732 | |
rs121912612 | 0 | 165,069,101 | |
rs121912613 | 0 | 165,046,869 | |
rs121912614 | 0 | 165,017,621 | |
rs121912615 | 0 | 165,046,998 | |
rs121912616 | 0 | 165,021,265 | |
rs267607049 | 0 | 165,060,026 | |
rs4855271 | 0 | 164,996,744 | |
rs776569472 | 0 | 165,021,296 | |
rs779803851 | 0 | 164,987,225 | |
rs780535026 | 0 | 165,017,807 | |
rs79717168 | 0 | 164,983,015 |
http://www.cmaj.ca/content/early/2014/12/01/cmaj.140657.abstract c.273_274delAG (p.Gly92Leufs*8), predicted to result in complete absence of a functional protein product. high prevalence of congenital sucrase–isomaltase deficiency among Inuit people