{{Rsnum
|rsid=2287939
|Gene=AMACR
|Chromosome=5
|position=33998778
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.2374
|Gene_s=AMACR,MIR4324
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 54.9 | 36.3 | 8.8
| HCB | 75.2 | 22.6 | 2.2
| JPT | 77.0 | 20.4 | 2.7
| YRI | 71.4 | 25.2 | 3.4
| ASW | 59.6 | 36.8 | 3.5
| CHB | 75.2 | 22.6 | 2.2
| CHD | 63.0 | 30.6 | 6.5
| GIH | 30.7 | 44.6 | 24.8
| LWK | 51.4 | 43.1 | 5.5
| MEX | 55.4 | 35.7 | 8.9
| MKK | 48.4 | 38.1 | 13.5
| TSI | 45.1 | 49.0 | 5.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=2287939
|allele=G
|frequency=0.725
|uid=1103654071344
|type=homozygous_SNP
|hugo=AMACR
|ensembl gene=ENSG00000082196
|ensembl transcript=ENST00000382085
|sift=TOLERATED
|disease=Defects in AMACR are the cause of AMACR deficiency (MIM:604489). It results in elevated concentrations of pristanic acid. It is associated with a form of adult onset sensory motor neuropathy.
}}

{{ neighbor
| rsid = 34677
| distance = 115
}}

{{PMID Auto
|PMID=20945498
|Title=AMACR polymorphisms, dietary intake of red meat and dairy and prostate cancer risk
|OA=1
}}

{{PMID|20445798|OA=1
}} Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.

{{PMID|20875727|OA=1
}} Non-synonymous variants in the AMACR gene are associated with schizophrenia.

{{GET Evidence
|gene=AMACR
|aa_change=Leu201Ser
|aa_change_short=L201S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2287939
|overall_frequency_n=8043
|overall_frequency_d=10758
|overall_frequency=0.74763
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=88
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=6
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}