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Gene id 276
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol AMY1A   Gene   UCSC   Ensembl
Aliases AMY1
Gene name amylase alpha 1A
Alternate names alpha-amylase 1, 1,4-alpha-D-glucan glucanohydrolase 1, amylase alpha 1A (salivary), amylase, salivary, alpha-1A, glycogenase, salivary alpha-amylase, salivary amylase alpha 1A,
Gene location 1p21.1 (103655518: 103664550)     Exons: 11     NC_000072.6
Gene summary(Entrez) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are
OMIM 104700

SNPs


rs10250822

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17293365C>A
NC_000007.14   g.17293365C>G
NC_000007.14   g.17293365C>T
NC_000007.13   g.17332989C>A
NC_000007.13   g.17332989C>G
NC_000007.13   g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609

rs10247158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17285544A>T
NC_000007.13   g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609

rs10249788

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17298523C>G
NC_000007.14   g.17298523C>T
NC_000007.13   g.17338147C>G
NC_000007.13   g.17338147C>T
XR_927073.2   n.16G>C
XR_927073.2   n.16G>A|SEQ=[C/G/T]|GENE=AHR
LOC101927609   101927609

rs3757824

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17296411T>C
NC_000007.14   g.17296411T>G
NC_000007.13   g.17336035T>C
NC_000007.13   g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa01100Metabolic pathways
hsa04970Salivary secretion
hsa04972Pancreatic secretion
hsa04973Carbohydrate digestion and absorption
hsa01100Metabolic pathways
hsa04970Salivary secretion
hsa04972Pancreatic secretion
hsa04973Carbohydrate digestion and absorption
hsa00500Starch and sucrose metabolism
Associated diseases References
Spermatogenesis defects MIK: 12151104
Plays a role in spermatogenesis MIK: 12151104

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12151104 Plays a ro
le in sper
matogenesi
s


Male infertility
Show abstract