DEFB110
defensin beta 110
Summary
Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1484799665 | 6:49,976,918 | G/A | — | uncertain significance |
| rs777193684 | 6:49,986,739 | C/T | — | uncertain significance |
| rs748518784 | 6:49,986,748 | T/A | — | uncertain significance |
| rs748568152 | 6:49,986,817 | T/C | — | uncertain significance |
| rs1582368629 | 6:49,986,818 | A/G | — | uncertain significance |
| rs749734054 | 6:49,986,831 | C/A | — | uncertain significance |
| rs775126237 | 6:49,986,838 | G/A | — | uncertain significance |
| rs180845231 | 6:49,986,900 | A/G | intron variant | — |
| rs199802995 | 6:49,989,597 | G/A | — | uncertain significance |
| rs1202989604 | 6:49,989,614 | A/T | — | uncertain significance |
| rs1774423812 | 6:49,989,617 | T/G | — | uncertain significance |
| rs942924158 | 6:49,989,636 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.