Product Details

SNP ID
rs146242544
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:50043667 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCCGTAGGGTCACATTCTGTCA[C/T]GCAGCAATGAGTTGTAGGTCTTGCA
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DEFB112 PubMed Links

Gene Details

Gene
DEFB112
Gene Name
defensin beta 112
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037498.1 250 Missense Mutation ATG,GTG M84V NP_001032587.1

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