Product Details

SNP ID
rs142617481
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:31405044 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATAGTATACTTCACTTTCTTTAC[A/T]TGTTGTTCTGCACCTGCCTGACTTG
Phenotype
MIM: 616075
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DEFB121 PubMed Links

Gene Details

Gene
DEFB121
Gene Name
defensin beta 121
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001011878.2 496 Missense Mutation AGT,TGT S34C NP_001011878.1
NM_001171832.1 496 Missense Mutation AGT,TGT S22C NP_001165303.1
XM_005260383.3 496 Missense Mutation AGT,TGT S22C XP_005260440.1

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