Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
102724428
Gene name Gene Name - the full gene name approved by the HGNC.
-
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LOC102724428
Synonyms (NCBI Gene) Gene synonyms aliases
SIK, SIK-1, SIK1, SIK1B, SNF1LK
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21p12
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1555841977 C>T Pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
ENSG00000275993 N/A N/A
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Glucagon signaling pathway  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epilepsy Epilepsy, Rolandic rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
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