Product Details

SNP ID

rs145112384

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31377421 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAATTCCACTGTTACCCATGCAT[C/T]GAAGGATGTGGCGTTTGCCTGCCAA

Phenotype

MIM: 607650 MIM: 615997

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DEFB118 PubMed Links

Gene Details

Gene

DEFB118

Gene Name

defensin beta 118

There are no transcripts associated with this gene.

Gene

DEFB119

Gene Name

defensin beta 119

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271209.1	246	Intron			NP_001258138.1
NM_153289.3	246	Missense Mutation	CAA,CGA	Q27R	NP_695021.2
NM_153323.4	246	Intron			NP_697018.1

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