{{Rsnum
|rsid=3816800
|Gene=ATP10A
|Chromosome=15
|position=25679947
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.4417
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ATP10A
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 35.4 | 50.8 | 13.8
| HCB | 4.5 | 52.3 | 43.2
| JPT | 9.1 | 47.7 | 43.2
| YRI | 20.6 | 52.4 | 27.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 4.5 | 52.3 | 43.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=3816800
|allele=G
|frequency=0.592
|uid=1103645567169
|type=homozygous_SNP
|hugo=ATP10A
|ensembl gene=ENSG00000206190
|ensembl transcript=ENST00000356865
|sift=
|disease=Defects in ATP10A are a cause of Angelman syndrome (AS) (MIM:105830); also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove.
}}

{{PMID Auto
|PMID=20403199
|Title=High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
|OA=1
}}

{{GET Evidence
|gene=ATP10A
|aa_change=Arg1298Ser
|aa_change_short=R1298S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3816800
|overall_frequency_n=5233
|overall_frequency_d=10758
|overall_frequency=0.486429
|n_genomes=42
|n_genomes_annotated=0
|n_haplomes=60
|n_articles=0
|n_articles_annotated=0
|nblosum100=3
|autoscore=0
|webscore=N
}}

{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}