GJA5
From SNPedia
is a | gene |
is | mentioned by |
Full name | gap junction protein, alpha 5, 40kDa |
EntrezGene | 2702 |
PheGenI | 2702 |
VariationViewer | 2702 |
ClinVar | GJA5 |
GeneCards | GJA5 |
dbSNP | 2702 |
Diseases | GJA5 |
SADR | 2702 |
HugeNav | 2702 |
wikipedia | GJA5 |
GJA5 | |
gopubmed | GJA5 |
EVS | GJA5 |
HEFalMp | GJA5 |
MyGene2 | GJA5 |
23andMe | GJA5 |
UniProt | P36382 |
Ensembl | ENSG00000143140 |
OMIM | 121013 |
# SNPs | 11 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs10465885 | 0 | 147,760,632 | |
rs11552588 | 0 | 147,773,279 | |
rs121434557 | 0 | 147,758,953 | |
rs121434558 | 0 | 147,758,977 | |
rs35594137 | 0 | 147,773,393 | |
rs387906612 | 0 | 147,759,094 | |
rs387906613 | 0 | 147,758,986 | |
rs387906614 | 0 | 147,758,578 | |
rs387906615 | 0 | 147,758,554 | |
rs587777304 | 0 | 147,759,016 | |
rs791295 | 0 | 147,766,499 |
[PMID 16790700] Mutations in this gene, Cx43 and Cx40 may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [PMID 15094345].