Product Details

SNP ID
rs193046742
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:188053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACATCCTATTTCATATCTTTCTC[C/T]TACCTTGCATTTCTTCCTGCAATAG
Phenotype
Polymorphism
C/T, Transition 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_001037732.2 173 Missense Mutation AGA,GGA R39G NP_001032821.1

View Full Product Details