Table 3.
Genotypes and predicted outcomes of putatively functional variants in two genomic regions associated with cerebellar abiotrophy in Kelpie dogs.
| Chromosome | ID | Base (UU GSD1.0) | Reference | 6359 | 6350 | 6348 | 634 | 635 | 636 | 639 | 640 | Gene | NCBI | Ensembl ID | Predicted Change |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 9 | rs24562265 | 33714212 | A A | A A | A A | A T | T T | A T | T T | T T | T T | PRR11 | NM_018304 | ENSCAFT00000027880.5 | N|Y (9) |
| 9 | rs851657894 | 33725826 | C C | T C | C C | C C | C C | C C | C C | C C | C C | SMG8 | NM_018149 | ENSCAFG00000017590 | T|I (112) |
| 9 | rs24562703 | 33780316 | G G | G G | G G | A G | G G | G G | G G | G G | G G | GDPD1 | - | ENSCAFG00000017594 | splice region |
| 9 | 34218228 | C C | C C | A C | C C | C C | A A | C C | C C | C C | VMP1 | NM_030938 | ENSCAFT00000078851.1 | P|Q (160) | |
| 9 | 34322737 | G G | G G | G G | G G | G G | G G | G G | G G | T G | TUBD1 | - | ENSCAFT00000062569.1 | splice region | |
| 20 | 56731656–56744321 | INS/INS | DEL/DEL | DEL/DEL | INS/DEL | INS/INS | INS/INS | INS/INS | DEL/DEL | INS/INS | intronic ZNF77.5 | NM_001080404 | intronic deletion | ||
| 20 | rs8708774 | 56749717 | A A | G G | G G | G A | A A | A A | A A | G G | A A | ZNF778 | NM_001201407 | - | N|S (11) |
| 20 | rs8708768 | 56750586 | G G | A A | A A | A G | G G | G G | A G | A A | G G | ZNF77.5 | NM_001080404 | - | G|E (26) |
| 20 | 57228029 | C C | T T | T T | T C | 0 0 | C C | 0 0 | T T | C C | LINGO3 | NM_001101391 | ENSCAFT00000030859.4 | R|C (359) | |
| 20 | 57306977 | C C | T T | 0 0 | 0 0 | C C | C C | T C | C C | C C | DOT1L | NM_0324823 | ENSCAFT00000075488.1 | R|Q (200) |