Product Details

SNP ID: rs147989915
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:31372953 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGAAAGATACATGCAAAAATCTTC[A/G]AGCTTGCTGCATTCCATCCAATGAA
Phenotype: MIM: 607650 MIM: 615997
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: DEFB118 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_054112.2	188	Missense Mutation	CAA,CGA	Q52R	NP_473453.1

There are no transcripts associated with this gene.