Product Details

SNP ID

rs199581284

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:6870758 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGATCGGGCAGGCAGAATAGAGAC[A/G]TTGCCCTCCACTGCTGACGCAATTG

Phenotype

MIM: 602056

Polymorphism

A/G, Transition 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	280	Missense Mutation	CGT,TGT	R44C	NP_005209.1

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