Product Details

SNP ID

rs56270143

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:6870704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCACTTGCAGCACTTGGCCTTCC[A/C]TCTGTAACAGGTGCCTTGAATTTTG

Phenotype

MIM: 602056

Polymorphism

A/C, 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	334	Missense Mutation	GGG,TGG	G62W	NP_005209.1

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