Gene Gene information from NCBI Gene database.
Entrez ID 102724428
Gene name -
Gene symbol LOC102724428
Synonyms (NCBI Gene)
SIKSIK-1SIK1SIK1BSNF1LK
Chromosome 21
Chromosome location 21p12
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1555841977 C>T Pathogenic Missense variant, coding sequence variant
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
ENSG00000275993 N/A N/A
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glucagon signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Self-limited epilepsy with centrotemporal spikes Pathogenic rs1555841977 RCV000656064