Product Details

SNP ID
rs201082197
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:158863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAAATGAAGTGCCTGAGGCACTA[C/T]GTGAAAATGGGAGATACTGTTGCCT
Phenotype
Polymorphism
C/T, Transition 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_139074.3 214 Missense Mutation CGT,TGT R47C NP_620713.1

View Full Product Details