Product Details

SNP ID
rs201224982
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:49968795 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACATATTCCCAGCTGTTGCATTCC[A/G]GCTTGCAAGCACCACGAACAAGCTG
Phenotype
MIM: 615243
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DEFB113 PubMed Links

Gene Details

Gene
DEFB113
Gene Name
defensin beta 113
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037729.1 131 Missense Mutation CCG,CTG P44L NP_001032818.1
Gene
DEFB114
Gene Name
defensin beta 114
There are no transcripts associated with this gene.

View Full Product Details