ATP2A1
From SNPedia
is a | gene |
is | mentioned by |
Full name | ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 |
EntrezGene | 487 |
PheGenI | 487 |
VariationViewer | 487 |
ClinVar | ATP2A1 |
GeneCards | ATP2A1 |
dbSNP | 487 |
Diseases | ATP2A1 |
SADR | 487 |
HugeNav | 487 |
wikipedia | ATP2A1 |
ATP2A1 | |
gopubmed | ATP2A1 |
EVS | ATP2A1 |
HEFalMp | ATP2A1 |
MyGene2 | ATP2A1 |
23andMe | ATP2A1 |
UniProt | O14983 |
Ensembl | ENSG00000196296 |
OMIM | 108730 |
# SNPs | 7 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs121918113 | 0 | 28,887,236 | |
rs121918114 | 0 | 28,900,841 | |
rs121918115 | 0 | 28,902,228 | |
rs398124554 | 0 | 28,902,650 | |
rs398124555 | 0 | 28,903,059 | |
rs551660089 | 0 | 28,894,244 | |
rs897301304 | 0 | 28,903,043 |
ATP2A1 encodes a calcium transporter ATPase found in muscle. Variants are associated with the recessive Brody disease.