Table 1. DNA sequence variations in SLC26A5.
DNA sequence variation | SNP ID | Location |
g.24586A>G (IVS2-2A>G) | IVS2 | |
g.33167T>C | rs7779997 | IVS5 |
g.33190T>G | rs72655379 | IVS5 |
g.34821C>T | rs56305143* | IVS6 |
g.53884C>T | rs62482417 | IVS10 |
g.55275A>G | rs72655388 | IVS11 |
g.56167A>G (p.S434S) | rs72655380 | Exon 12 |
g.56381C>A | rs72655389 | IVS12 |
g.56388G>C | rs4604353 | IVS12 |
g.56417G>A | rs72655390 | IVS12 |
g.56471G>A | rs4285410 | IVS12 |
g.57105G>A | rs72655391 | IVS12 |
g.57132C>T | rs56373660 | IVS12 |
g.57137T>C | rs62482415 | IVS12 |
g.57164G>T | rs72655392 | IVS12 |
g.57365A>G | rs72655381 | IVS13 |
g.66012C>T | rs72655395 | IVS14 |
g.67439T>C | rs12705120 | IVS16 |
g.69036T>C | rs10273883 | IVS18 |
g.69743A>G (p.I663V) | rs72655382 | Exon 19 |
g.69904T>C | rs72655393 | IVS19 |
g.69917_69919delTCT | rs66928926 | IVS19 |
g.70029G>A | rs62482412 | IVS19 |
g.70078_70082delATATA | rs72655394 | IVS19 |
g.70118A>G | rs72655378 | IVS19 |
Entrez database (http://www.ncbi.nlm.nih.gov) reference sequence genomic DNA positions and nucleotide (splice site/protein) variations, dbSNP SNP ID numbers [19], and genetic locations within SLC26A5 are shown. *formerly hCG1811409, Celera database [17]. IVS = intervening sequence (intron). Novel variants are shown in bold type.