Product Details

SNP ID
rs140403947
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:6870708 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTGCAGCACTTGGCCTTCCCTCT[G/T]TAACAGGTGCCTTGAATTTTGGTAA
Phenotype
MIM: 602056
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
DEFB1 PubMed Links

Gene Details

Gene
DEFB1
Gene Name
defensin beta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005218.3 330 Nonsense Mutation TAA,TAC *60Y NP_005209.1

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