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ATP7A

From SNPedia

is agene
is mentioned by
Full nameATPase, Cu++ transporting, alpha polypeptide
EntrezGene538
PheGenI538
VariationViewer538
ClinVarATP7A
GeneCardsATP7A
dbSNP538
SADR538
HugeNav538
wikipediaATP7A
googleATP7A
gopubmedATP7A
EVSATP7A
HEFalMpATP7A
MyGene2ATP7A
23andMeATP7A
UniProtQ04656
EnsemblENSG00000165240
OMIM300011
# SNPs91
 Max MagnitudeChromosome positionSummary
rs106247278,048,530
rs13817813177,969,564
rs138958687078,021,066
rs151340631078,011,216
rs151340632078,042,694
rs151340633077,988,722
rs2227291078,013,005
rs267606672078,045,502
rs267606673078,029,314
rs2893606878,011,216
rs398123133077,989,827
rs398123135078,042,584
rs72554636077,989,847
rs72554639078,011,191
rs72554640078,011,239
rs72554644078,012,885
rs72554645078,013,089
rs72554649078,029,271
rs72554650078,029,289
rs72554652078,029,389
rs781995242078,029,290
rs794729231078,011,448
rs797045325077,989,628
rs79704532777,989,646
rs79704532977,998,496
rs797045330077,998,601
rs797045331078,003,072
rs797045332078,003,168
rs79704533378,003,196
rs797045336078,009,176
rs797045337078,009,225
rs797045338078,011,175
rs797045339078,011,180
rs797045340078,011,253
rs797045341078,011,257
rs797045342078,011,452
rs79704534378,011,510
rs797045344078,011,498
rs797045346078,011,662
rs797045347078,011,679
rs797045348078,011,674
rs797045349078,012,877
rs797045350078,012,889
rs797045351078,012,893
rs79704535278,012,957
rs79704535378,013,008
rs797045354078,013,063
rs79704535578,013,101
rs79704535678,013,111
rs797045357078,014,755
... further results


ATP7A encodes a copper ion transporter that exports copper from cells. Mutations in the gene cause copper deficiency in the form of Menkes disease or occipital horn syndrome. Over 150 variants have been noted.