{{Rsnum
|rsid=16891982
|Gene=SLC45A2
|Chromosome=5
|position=33951588
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.4408
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=hair colour, melanoma
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=SLC45A2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 3.2 | 96.8
| HCB | 97.7 | 2.3 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 97.7 | 2.3 | 0.0
| 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
}}{{ neighbor
| rsid = 28939380
| distance = 40
}}

This snp influences [[skin pigmentation]]. The allele p.L374F indicates light-skinned european ancestry {{PMID|16847698}}

{{PMID|18563784}} c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing)

An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. [[rs16891982]](C) in dbSNP orientation, significantly increases the possibility of having black [[hair color]], with an odds ratio of around 7.{{PMID|18806926}}

{{Venter SNP
|rsid=16891982
|allele=G
|frequency=1
|uid=1103654071247
|type=homozygous_SNP
|hugo=SLC45A2
|ensembl gene=ENSG00000164175
|ensembl transcript=ENST00000382102
|sift=
|disease=Defects in SLC45A2 are the cause of oculocutaneous albinism type 4 (OCA4) (MIM:606574). OCA4 is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. It leads to reduced visual acuity.
}}

{{GWAS Summary
|SNP=rs16891982
|PubMedID=17999355
|Condition=Skin pigmentation by reflectance spectroscopy
|Gene=SLC45A2
|Risk Allele=C
|pValue=3.00E-011
|OR=4.86
|95CI=2.88-8.21
|OA=1
}}
{{ neighbor
| rsid = 17855902
| distance = 1
}}

{{omim
|id=606202
|desc=SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2
|rsnum=16891982
}}

{{PharmGKB
|RSID=rs16891982
|Name_s=
|Gene_s=SLC45A2
|Feature=
|Evidence=PubMed ID:17999355; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genomewide association study of skin pigmentation in a South Asian population (Initial Sample Size: 363 with maxL* < 56 and 374 with maxL* > 63; 20% tails of distribution; Replication Sample Size: 116 low maxL*, 115 high maxL* individuals). This variant is associated with skin pigmentation by reflectance spectroscopy.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356699
}}

{{PMID Auto
|PMID=19710684
|OA=1
}} This population-based case-control study investigated a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in an Australian population. rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls), subjects with northern European ancestry (1,438 cases and 3,098 controls), northern European subjects adjusted for hair, eye, and skin colour, and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all).

{{PMID Auto GWAS
|PMID=20585627
|Trait=Eye color
|Title=Web-based, participant-driven studies yield novel genetic associations for common traits
|RiskAllele=C
|Pval=1E-12
|OR=0.84
|ORtxt=[NR] unit increase
|OA=1
}}

{{PharmGKB
|RSID=rs16891982
|Name_s=SLC45A2: 1122C>G; Phe374Leu
|Gene_s=SLC45A2
|Feature=
|Evidence=PubMed ID:18563784
|Annotation=This variant is associated with protection from malignant melanoma.
|Drugs=
|Drug Classes=
|Diseases=Melanoma
|Curation Level=Curated
|PharmGKB Accession ID=PA162316705
}}
{{PMID Auto
|PMID=20457063
|Title=Human eye colour and HERC2, OCA2 and MATP
}}

{{omim
|id=606202
|rsnum=16891982
|variant=0008
}}

{{ClinVar
|rsid=16891982
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=33951693
|CHROM=5
|GMAF=0.4409
|dbSNPBuildID=123
|SSR=0
|SAO=1
|VP=0x05016800000015051f130100
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000005.9:g.33951693C\x3d
|CLNSRC=NCBI override; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606202.0008
|CLNSIG=255
|CLNCUI=C2673584; C0151779
|CLNDBN=Skin/hair/eye pigmentation, variation in, 5; Malignant melanoma of skin
|Disease=Skin/hair/eye pigmentation; Malignant melanoma of skin
|CLNACC=RCV000004763.1; RCV000022392.1
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.5592; 0.4408
|CLNDSDB=MedGen:OMIM; MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C2673584:227240; C0151779:155600:93655004
|COMMON=1
|GENEINFO=SLC45A2:51151
|GENE_ID=51151
|GENE_NAME=SLC45A2
}}

{{PMID|18483556|OA=1
}} A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

{{PMID|19340012|OA=1
}} Genome-wide association study of tanning phenotype in a population of European ancestry.

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

{{PMID|19440451|OA=1
}} Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations.

{{PMID|19668368|OA=1
}} Ancestry analysis in the 11-M Madrid bomb attack investigation.

{{PMID|20042077|OA=1
}} Genetic determinants of hair and eye colours in the Scottish and Danish populations.

{{PMID|20463881|OA=1
}} Digital quantification of human eye color highlights genetic association of three new loci.

{{PMID|20806075|OA=1
}} Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

{{PMID|20850402}} Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and Libyan populations.

{{PMID Auto
|PMID=22912732
|Title=Skin Color Variation in Orang Asli Tribes of Peninsular Malaysia
|OA=1
}}

{{GET Evidence
|gene=SLC45A2
|aa_change=Leu374Phe
|aa_change_short=L374F
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs16891982
|overall_frequency_n=7442
|overall_frequency_d=10758
|overall_frequency=0.691764
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=94
|n_articles=4
|n_articles_annotated=4
|qualityscore_case_control=5
|qualityscore_severity=0
|qualityscore_treatability=0
|gene_in_genetests=Y
|in_gwas=Y
|in_pharmgkb=Y
|pph2_score=0.947
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|max_or_disease_name=Skin pigmentation
|max_or_case_pos=2253
|max_or_case_neg=117
|max_or_control_pos=303
|max_or_control_neg=63
|max_or_or=4.004
|autoscore=5
|webscore=N
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=0
|summary_short=Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.
}}

{{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
}}

[[Squamous Cell Carcinoma]]

{{PMID Auto
|PMID=23393597
|Title=Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
|OA=1
}}

{{PMID Auto
|PMID=23786662
|Title=Systematic identification of DNA variants associated with ultraviolet radiation using a novel Geographic-Wide Association Study (GeoWAS)
|OA=1
}}

{{PMID Auto
|PMID=23771755
|Title=Improved eye- and skin-color prediction based on 8 SNPs.
|OA=1
}}

{{PMID Auto
|PMID=25093503
|Title=The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}