Product Details

SNP ID

rs34247288

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31372984 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCATTCCATCCAATGAAGACCA[C/T]AGGCGAGTTCCTGCGACATCTCCCA

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_054112.2	219	Silent Mutation	CAC,CAT	H62H	NP_473453.1

Gene

DEFB119

Gene Name

defensin beta 119

There are no transcripts associated with this gene.

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