Product Details

SNP ID
rs202219607
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:96085 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTTTAGATACTGAAAGGTACATA[C/G]TTCTTTGTAGGAACAAGCTATCATG
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DEFB125 PubMed Links

Gene Details

Gene
DEFB125
Gene Name
defensin beta 125
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153325.3 177 Missense Mutation CTT,GTT L47V NP_697020.2

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