Product Details

SNP ID
rs144864877
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:7056621 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTTCTGGGTTGTAGCCTCATCA[G/T]CTCTTTCCTGGAGTGACTCAGCCTG
Phenotype
MIM: 600472
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DEFA5 PubMed Links

Gene Details

Gene
DEFA5
Gene Name
defensin alpha 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021010.2 119 Missense Mutation GAT,GCT D26A NP_066290.1

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