Product Details

SNP ID
rs201094510
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:6924824 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCTCTGTTCTCATCCCTCAGAG[A/G]CAGCAGAATCTGTGGTTAATACCCA
Phenotype
MIM: 600471
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DEFA6 PubMed Links

Gene Details

Gene
DEFA6
Gene Name
defensin alpha 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001926.3 338 Silent Mutation TGC,TGT C99C NP_001917.1

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