Product Details

SNP ID

rs201177501

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31440748 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGTGCTGCTGCTCTTATCCCAGC[C/T]GACTCCAGGTAACCTGAACCTCCTT

Phenotype

MIM: 616076

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DEFB123 PubMed Links

Gene Details

Gene

DEFB123

Gene Name

defensin beta 123

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153324.3	230	Missense Mutation	CCG,CTG	P17L	NP_697019.1

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