Product Details

SNP ID
rs147043953
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:158994 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGACTATGTTACAATAATAGAAAA[A/T]TTCCCAAGCCTGAAGACACAGTCTA
Phenotype
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DEFB127 PubMed Links

Gene Details

Gene
DEFB127
Gene Name
defensin beta 127
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_139074.3 345 Missense Mutation AAA,AAT K90N NP_620713.1

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