Product Details

SNP ID: rs201142786
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.8:11974005 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCATATTTTTACAGCAAGACAGAA[C/T]ATTGTGGCAGAACGCAATCCACCTG
Phenotype
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: DEFB135 PubMed Links

Gene Details

There are no transcripts associated with this gene.

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033018.2	169	Missense Mutation	ATT,GTT	I57V	NP_001028190.2