Product Details

SNP ID
rs200263045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:147824683 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCAGCAAGGCCCAGATTTTTGA[A/G]TGAGGATAGAAGTCTGGCGTTTCCT
Phenotype
MIM: 167790
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SPINK1 PubMed Links

Gene Details

Gene
SPINK1
Gene Name
serine peptidase inhibitor, Kazal type 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003122.4 507 Missense Mutation ACT,ATT T73I NP_003113.2

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