Product Details
- SNP ID
-
rs144973782
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:31303397 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCGTTTCTGCACATGCCTTGGTAAA[C/G]CTCACATGGATTCCAAGGCTCTCGG
- Phenotype
-
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
DEFB116
PubMed Links
Gene Details
- Gene
- DEFB116
- Gene Name
- defensin beta 116
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001037731.1 |
124 |
Missense Mutation |
CTT,GTT |
L42V |
NP_001032820.1 |
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