rs17107315
This is a variant in the SPINK1 gene that changes a asparagine to an serine.
▶ClinVar annotation
Finnish congenital nephrotic syndrome (NPHS1); Hereditary pancreatitis (PCTT); Pancreatitis; Pancreatitis, chronic, susceptibility to; Tropical pancreatitis
View on ClinVar →▶Research that mentions this SNP (1)
▶Identification of a functional enhancer variant within the chronic pancreatitis‐associatedSPINK1c.101A>G (p.Asn34Ser)‐containing haplotypeFunctionalN=638Arnaud Boulling et al.(2017)· Human Mutation
This functional study investigated the pathogenic mechanism of the SPINK1 p.N34S (rs17107315) risk haplotype for chronic pancreatitis (CP) in a sample of 638 Swiss individuals. Haplotype analysis revealed that the CAT haplotype (containing rs17107315, rs142703147, and rs148911734) was significantly associated with CP status (p=9.21e-14 for the C/A/T haplotype). Through affinity chromatography, proteomics, and electrophoretic mobility shift assays, rs148911734 was identified as a potential pathological variant affecting transcription factor binding, particularly for GATA6 and YY1, with differential binding patterns at the risk versus non-risk allele.
About SPINK1
The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]
View all SPINK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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