Table 5.
SNP genotyping in harmonin (USH1C)
SNP | Location | Genotype V:1 | Genotype V:2 | Genotype V:3 | Protein alteration |
---|---|---|---|---|---|
rs2240489 (C>G) | Intron 1 | C/G | G/G | C/G | None |
rs2041027 (C>T) | Intron 2 | C/T | T/T | C/T | None |
rs10832976 (C>T) | Exon 23 | C/T | T/T | C/T | p.V779V |
rs1064074 (G>C) | Exon 24 | G/C | G/C | G/G | p.E819D |
rs2072232 (G>C) | Intron 25 | G/C | G/C | G/G | None |
rs10832795 (T>C) | Intron 26 | T/T | T/C | T/C | None |