From: Whole-Genome sequencing and genetic variant analysis of a quarter Horse mare
PMID | Chromosome | Coordinate | Gene | Gene Name | Phenotype | Associated Genotype | QH Genotype |
---|---|---|---|---|---|---|---|
20353955 [32] | 1 | 108,249,293 | TRPM1 | transient receptor potential cation channel | Leopard complex spotting and congenital stationary night blindness | C/C C/T | T/T |
17498917 [12] | 1 | 128,056,148 | PPIB | peptidyl-prolyl cis-trans isomerase B | Hereditary equine regional dermal asthenia | A/A | G/A |
20419149 [33] | 1 | 138,235,715 | MYO5A | myosin-Va isoform 1 | Lavender foal syndrome | Del 1 bp | Neg |
8995760 [34] | 3 | 36,259,552 | MC1R | melanocyte-stimulating hormone receptor | Chestnut coat color | T/T | C/T |
11086549 [17] | 3 | 36,259,554 | MC1R | melanocyte-stimulating hormone receptor | Chestnut coat color | A/A | G/G |
16284805 [35] | 3 | 77,735,520 | KIT | mast/stem cell growth factor receptor | Sabino spotting | A/A A/T | T/T |
18253033 [36] | 3 | 77,740,163 | KIT | mast/stem cell growth factor receptor | Tobiano spotting pattern | A/A A/G | G/G |
21070277 [6] | 4 | 38,969,307 | PDK4 | pyruvate dehydrogenase kinase isozyme 4 | Racing performance | A/A A/C | C/C |
21070277 [6] | 4 | 38,973,231 | PDK4 | pyruvate dehydrogenase kinase isozyme 4 | Racing performance | A/A A/G | G/G |
12230513 [37] | 5 | 20,256,789 | LAMC2 | laminin subunit gamma-2 precursor | Junctional epidermolysis bullosa | Ins C | Neg |
17029645 [38] | 6 | 73,665,304 | PMEL17 | melanocyte protein 17 precursor | Silver coat color | T/T T/C | C/C |
19016681 [39] | 8 | 45,603,643-45,610,231 | LAMA3 | laminin alpha-3 | Junctional epidermolysis bullosa | Del 6,589 | Neg |
9103416 [40] | 9 | 35,528,429 | DNAPK | DNA-dependent protein kinase catalytic subunit | Severe combined immunodeficiency | Del 5 bp | Neg |
15318347 [41] | 10 | 9,554,699 | RYR1 | ryanodine receptor 1 isoform 2 | Malignant hyperthermia | G/G G/C | C/C |
21059062 [19] | 10 | 15,884,567 | CKM | creatine kinase M-type | Racing performance | A/A A/G | G/G |
18358695 [7] | 10 | 18,940,324 | GYS1 | glycogen [starch] synthase muscle | Polysaccharide storage myopathy | A/A A/G | G/G |
7623088 [42] | 11 | 15,500,439 | SCN4A | sodium channel protein type 4 subunit alpha | Equine hyperkalemic periodic paralysis | G/G G/C | C/C |
18802473 [43] | 14 | 26,701,092 | SLC36A1 | proton-coupled amino acid transporter 1 | Champagne dilution | C/C C/G | G/G |
9580670 [44] | 17 | 50,624,658 | EDNRB | endothelin B receptor precursor | Lethal white foal syndrome | AG/AG | TC/TC |
20932346 [18] | 18 | 66,493,737 | MSTN | growth/differentiation factor 8 precursor | Optimum racing distance | T/T | T/T |
12605854 [45] | 21 | 30,666,626 | SLC45A2 | membrane-associated transporter protein isoform | Cream coat color | A/A A/G | G/G |
21059062 [19] | 22 | 22,684,390 | COX4I2 | cytochrome c oxidase subunit 4 isoform 2 | Racing performance | T/T T/C | T/T |
11353392 [46] | 22 | 25,168,567 | ASIP | agouti-signaling protein precursor | Black and bay color | Del 11 bp | ND |
18641652 [47] | 25 | 6,574,013-6,581,600 | STX17 | syntaxin 17 | Gray coat color | Dup 4,600 | Neg |