{{Rsnum
|rsid=34677
|Gene=AMACR
|Chromosome=5
|position=33998663
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.1166
|Gene_s=AMACR,C1QTNF3-AMACR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 70.8 | 28.3 | 0.9
| HCB | 74.5 | 21.9 | 3.6
| JPT | 79.6 | 18.6 | 1.8
| YRI | 87.8 | 10.9 | 1.4
| ASW | 91.2 | 8.8 | 0.0
| CHB | 74.5 | 21.9 | 3.6
| CHD | 75.7 | 21.5 | 2.8
| GIH | 66.3 | 29.7 | 4.0
| LWK | 91.8 | 7.3 | 0.9
| MEX | 86.2 | 13.8 | 0.0
| MKK | 83.3 | 16.0 | 0.6
| TSI | 74.5 | 25.5 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=34677
|allele=A
|frequency=0.092
|uid=1103654071314
|type=heterozygous_SNP
|hugo=AMACR
|ensembl gene=ENSG00000082196
|ensembl transcript=ENST00000382085
|sift=
|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 = 2287939
| distance = 115
}}

{{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=Gln239His
|aa_change_short=Q239H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs34677
|overall_frequency_n=1266
|overall_frequency_d=10758
|overall_frequency=0.11768
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-1
|autoscore=2
|n_web_uneval=5
}}

{{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}}