{{Rsnum
|rsid=3195676
|Gene=AMACR
|Chromosome=5
|position=34007995
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3811
|Gene_s=AMACR,MIR4324
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 38.5 | 50.8 | 10.8
| HCB | 14.3 | 40.5 | 45.2
| JPT | 16.3 | 44.2 | 39.5
| YRI | 1.6 | 19.0 | 79.4
| ASW | 0.0 | 0.0 | 0.0
| CHB | 14.3 | 40.5 | 45.2
| 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=3195676
|allele=T
|frequency=0.375
|uid=1103654071337
|type=heterozygous_SNP
|hugo=AMACR
|ensembl gene=ENSG00000082196
|ensembl transcript=ENST00000382085
|sift=AFFECT FUNCTION
|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.
}}

{{PMID Auto
|PMID=17683075
|Title=Sequence variation in alpha-methylacyl-CoA racemase and risk of early-onset and familial prostate cancer.
}}

{{PMID Auto
|PMID=20011102
|Title=Fine-scale variation and genetic determinants of alternative splicing across individuals.
|OA=1
}}

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

{{GET Evidence
|gene=AMACR
|aa_change=Val9Met
|aa_change_short=V9M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3195676
|overall_frequency_n=4454
|overall_frequency_d=10730
|overall_frequency=0.415098
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=40
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=4
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}