Product Details

SNP ID

rs200506506

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:6936081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACCAATGAGGCAGTTCCCAACA[C/G]GAAGTTCTGTTCGCCGGCAGAATAC

Phenotype

MIM: 601157

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DEFA4 PubMed Links

Gene Details

Gene

DEFA4

Gene Name

defensin alpha 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001925.2	358	Missense Mutation	CCT,CGT	P78R	NP_001916.1

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