Product Details

SNP ID: rs200402957
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:50009271 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATACTTTGGTTCAAAATTGCTTCTG[A/G]CTGCAATCAAGAAAAATATCTAAAG
Phenotype
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: DEFB110 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037497.1	102	Intron			NP_001032586.1
NM_001037728.2	102	Missense Mutation	GCC,GTC	A19V	NP_001032817.1