Product Details

SNP ID
rs75442118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:145508 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCATGTAAAGAATGGTTGGGCAA[C/T]GTGCGGCAAACAAAGGGACTGCTGT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DEFB126 PubMed Links

Gene Details

Gene
DEFB126
Gene Name
defensin beta 126
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030931.3 228 Missense Mutation ACG,ATG T51M NP_112193.1

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