Product Details

SNP ID

rs149744379

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31406103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGAGATCCTGTTTACCTGGGGTG[A/T]CCTGGGCCAGGAGCAGAGTAACAGT

Phenotype

MIM: 616075

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DEFB121 PubMed Links

Gene Details

Gene

DEFB121

Gene Name

defensin beta 121

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001011878.2	164	Missense Mutation	GAC,GTC	D17V	NP_001011878.1
NM_001171832.1	164	Intron			NP_001165303.1
XM_005260383.3	164	Intron			XP_005260440.1

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