Product Details

SNP ID
rs201950581
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:30166461 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGACCCTGGCTTGTCGGATGCAAT[C/T]CATCCAGAGCCCTTCCCAGAGCCTC
Phenotype
MIM: 617005
Polymorphism
C/T, 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_012131.2 193 Missense Mutation AAT,GAT N53D NP_036263.1

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