{{Rsnum
|rsid=1426654
|Gene=SLC24A5
|Chromosome=15
|position=48134287
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4775
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SLC24A5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 0.0 | 4.4 | 95.6
| JPT | 0.0 | 1.8 | 98.2
| YRI | 0.0 | 2.7 | 97.3
| ASW | 0.0 | 31.6 | 68.4
| CHB | 0.0 | 4.4 | 95.6
| CHD | 0.0 | 6.4 | 93.6
| GIH | 89.0 | 11.0 | 0.0
| LWK | 0.9 | 12.8 | 86.2
| MEX | 33.3 | 49.1 | 17.5
| MKK | 9.6 | 44.9 | 45.5
| TSI | 99.0 | 1.0 | 0.0
| HapMapRevision=28
}}This SNP influences [[skin pigmentation]]. The allele, A111T, rs1426654(A), indicates light-skinned european ancestry. [PMID 16847698, PMID 16357253]

It appears as if this SNP is a relatively new one in human evolution; one estimate {{PMID|17182896}} is that the [[rs1426654(A)]] allele, in other words, light skin pigmentation, spread through the European population around 6,000 - 12,000 years ago. Prior to that, "European ancestors" were most likely relatively brown-skinned. Another study ({{PMID|24048645|OA=1
}}) has concluded that almost individuals carrying the A111T variant can trace ancestry back to a single person who most likely lived at least 10,000 years ago. 

This SNP is one of three from the [[SLC24A5]] gene that can be analyzed to categorize the ancestry of a person as either European, African, or Asian, based on a 2009 study.{{PMID|19440451|OA=1
}}

The 3 SNPs are:

* [[rs1426654]]
* [[rs2555364]]
* [[rs16960620]]

{{omim
|id=113750
|desc=SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4
|rsnum=1426654
}}

{{omim
|id=609802
|desc=SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER
|rsnum=1426654
}}

{{omim
|id=609802
|rsnum=1426654
|variant=0001
}}

{{ClinVar
|rsid=1426654
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=48426484
|CHROM=15
|GMAF=0.4776
|dbSNPBuildID=88
|SSR=0
|SAO=1
|VP=0x05016800000015051f130101
|GENEINFO=SLC24A5:283652
|GENE_NAME=SLC24A5
|GENE_ID=283652
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.48426484A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=609802.0001
|CLNSIG=5
|CLNCUI=C2676042
|CLNDBN=Skin/hair/eye pigmentation, variation in, 4
|Disease=Skin/hair/eye pigmentation
|CLNACC=RCV000001552.2
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.4775; 0.5225
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2676042:113750:370097
|COMMON=1
}}

{{PMID Auto
|PMID=16255080
|Title=A haplotype map of the human genome.
|OA=1
}}

{{PMID Auto
|PMID=17557415
|Title=A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping.
|OA=1
}}

{{PMID Auto
|PMID=17999355
|Title=A genomewide association study of skin pigmentation in a South Asian population.
|OA=1
}}

{{PMID Auto
|PMID=18248681
|Title=Prevalence of common disease-associated variants in Asian Indians.
|OA=1
}}

{{PMID Auto
|PMID=18282109
|Title=Adaptations to climate in candidate genes for common metabolic disorders.
|OA=1
}}

{{PMID Auto
|PMID=18637132
|Title=A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects.
}}

{{PMID Auto
|PMID=19384953
|Title=Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
|OA=1
}}

{{PMID Auto
|PMID=19503611
|Title=The role of geography in human adaptation.
|OA=1
}}

{{PMID Auto
|PMID=19737746
|Title=Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.
|OA=1
}}

{{PMID Auto
|PMID=19884608
|Title=Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations.
|OA=1
}}

{{GET Evidence
|gene=SLC24A5
|aa_change=Thr111Ala
|aa_change_short=T111A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1426654
|overall_frequency_n=2902
|overall_frequency_d=10758
|overall_frequency=0.269753
|n_genomes=34
|n_genomes_annotated=0
|n_haplomes=60
|n_articles=0
|n_articles_annotated=0
|nblosum100=1
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23100201
|Title=A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
|OA=1
}}

{{PMID Auto
|PMID=23224873
|Title=NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha-MSH and alters cholesterol homeostasis in normal human melanocytes.
}}

{{PMID Auto
|PMID=23771755
|Title=Improved eye- and skin-color prediction based on 8 SNPs.
|OA=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}}