{{Rsnum
|rsid=6453373
|Gene=AP3B1
|Chromosome=5
|position=78129204
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.1864
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=AP3B1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 0.0 | 11.5 | 88.5
| HCB | 34.3 | 49.6 | 16.1
| JPT | 23.9 | 50.4 | 25.7
| YRI | 0.7 | 8.2 | 91.2
| ASW | 0.0 | 5.3 | 94.7
| CHB | 34.3 | 49.6 | 16.1
| CHD | 34.9 | 51.4 | 13.8
| GIH | 2.0 | 33.7 | 64.4
| LWK | 0.0 | 1.8 | 98.2
| MEX | 1.7 | 25.9 | 72.4
| MKK | 0.6 | 5.1 | 94.2
| TSI | 0.0 | 17.6 | 82.4
| HapMapRevision=28
}}{{Venter SNP
|rsid=6453373
|allele=T
|frequency=0.925
|uid=1103654140010
|type=homozygous_SNP
|hugo=AP3B1
|ensembl gene=ENSG00000132842
|ensembl transcript=ENST00000380357
|sift=TOLERATED
|disease=Defects in AP3B1 are the cause of Hermansky-Pudlak syndrome 2 (HPS2) (MIM:608233, 203300). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.
}}

{{GET Evidence
|gene=AP3B1
|aa_change=Val585Glu
|aa_change_short=V585E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6453373
|overall_frequency_n=10025
|overall_frequency_d=10758
|overall_frequency=0.931865
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=97
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.002
|genetests_reviewed=Y
|nblosum100=5
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}