Product Details

SNP ID

rs75367252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:49960378 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATATGTCTATTTGCTTTTCACTCT[A/C]AAGACAGTCTCTTTTACAACGACCG

Phenotype

MIM: 615243

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DEFB113 PubMed Links

Gene Details

Gene

DEFB113

Gene Name

defensin beta 113

There are no transcripts associated with this gene.

Gene

DEFB114

Gene Name

defensin beta 114

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037499.1	124	Nonsense Mutation	GAG,TAG	E42*	NP_001032588.1

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