Table 1. Characteristics of A3F genetic variants.
| SNP rs# | Position on Chr. 22 | Location | codon change | Allele change | Predicted SNP functiona | Polyphenb |
|---|---|---|---|---|---|---|
| rs5757432 | 37758865 | Intergenic | C/T | miRNA | ||
| rs5750727 | 37767356 | Intron | C/G | TFBS | ||
| rs5750728 | 37770095 | Intron or alternative exon | V78A | C/T | TFBS Splicing(ESE) | benign |
| rs2014881 | 37775326 | Intron | A/G | |||
| rs2076101 | 37775500 | exon | I231V | A/G | Splicing(ESE), nsSNP | possibly damaging |
| rs5750735 | 37779601 | 3'UTR | C/T | miRNA |
aPredicated by SNPinfo web server [http://snpinfo.niehs.nih.gov]); TFBS, transcription factor-binding site; miRNA, MicroRNA-binding sites; nsSNP, non-synonymous SNP; ESE, exonic splicing enhancer.
bPredicated by Variant Effect Predictor from Ensembl (www.ensembl.org/)