Product Details
- SNP ID
-
rs142729979
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:31372998 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATGAAGACCACAGGCGAGTTCCTG[C/T]GACATCTCCCACACCCTTGAGTGAC
- Phenotype
-
MIM: 607650
MIM: 615997
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
DEFB118
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs34173055] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
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 |
233 |
Missense Mutation |
GCG,GTG |
A67V |
NP_473453.1 |
- Gene
- DEFB119
- Gene Name
- defensin beta 119
There are no transcripts associated with this gene.
View Full Product Details