Product Details

SNP ID

rs201794690

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:50043739 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTATCATCACATTGATTTTTACATC[A/G]ACCTCCAATCGCTGTACATGACTTC

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DEFB112 PubMed Links

Gene Details

Gene

DEFB112

Gene Name

defensin beta 112

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037498.1	178	Nonsense Mutation	CGA,TGA	R60*	NP_001032587.1

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