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PAH

From SNPedia

is agene
is mentioned by
Full namephenylalanine hydroxylase
EntrezGene5053
PheGenI5053
VariationViewer5053
ClinVarPAH
GeneCardsPAH
dbSNP5053
SADR5053
HugeNav5053
wikipediaPAH
googlePAH
gopubmedPAH
EVSPAH
HEFalMpPAH
MyGene2PAH
23andMePAH
UniProtP00439
EnsemblENSG00000171759
OMIM612349
# SNPs341
 Max MagnitudeChromosome positionSummary
i3003397103,260,410
i3003398103,246,708
i3003399103,246,681
i3003400103,246,654
i3003401103,246,593
i3003403103,237,454
i3003404103,234,270
i3003405103,234,252
i4000467103,246,621
i4000470103,306,620
i4000472103,288,671
i4000473103,288,534
i4000474103,246,660
i4000475103,245,481
i4000476103,238,137
i4000477103,246,618
i4000478103,246,597
i4000479103,237,555
i4000481103,246,707
rs10860936102,889,174
rs11111419102,891,265
rs1182039213102,852,881
rs1182039233102,852,926
rs1182039256102,912,819
rs1388099063102,855,321
rs1402439183102,844,399
rs1409455923102,894,918
rs1495954753102,843,684
rs1498694102,864,098
rs1522305102,886,978
rs17183010102,877,415
rs1722387102,847,292
rs17999703102,840,398
rs18011473102,855,233
rs18011523102,840,473
rs1994755653102,912,842
rs1994755663102,912,794
rs199475570102,894,735
rs1994755753102,855,316
rs1994755793102,852,917
rs1994755823102,851,755
rs1994755840102,843,648
rs1994755853102,917,073
rs1994755863102,877,544
rs1994755873102,866,645
rs1994755883102,855,328
rs1994755893102,855,169
rs1994755903102,843,647
rs1994755913102,912,822
rs1994755923102,851,688
... further results

Mutations in the phenylalanine hydroxylase (PAH) gene which result in lower activities of the enzyme will cause the metabolic disease phenylketonuria.

SNPs in this gene include: