Product Details

SNP ID
rs200752417
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:31450069 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGAATCTTTATGGCAAATGCCG[A/T]TACAGATGCTCCAAGAAGGAAAGAG
Phenotype
MIM: 616076
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DEFB123 PubMed Links

Gene Details

Gene
DEFB123
Gene Name
defensin beta 123
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153324.3 279 Silent Mutation CGA,CGT R33R NP_697019.1

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