Product Details

SNP ID
rs112285554
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:30166437 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCTATAGAACTTGCATTGCAACC[A/G]GACCCTGGCTTGTCGGATGCAATTC
Phenotype
MIM: 617005
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CLDN17 PubMed Links

Gene Details

Gene
CLDN17
Gene Name
claudin 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012131.2 217 Missense Mutation CGG,TGG R61W NP_036263.1

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