Product Details

SNP ID
rs78318897
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:187977 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAATGTTGATGTGGCTTCTTAAAT[G/T]ACACATGTTTTTTCTCTTCTTCATC
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DEFB128 PubMed Links

Gene Details

Gene
DEFB128
Gene Name
defensin beta 128
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037732.2 249 Nonsense Mutation TAA,TCA *64S NP_001032821.1

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