{{Rsnum
|rsid=3829241
|Gene=TPCN2
|Chromosome=11
|position=69087895
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2355
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TPCN2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 17.7 | 49.6 | 32.7
| HCB | 0.7 | 32.8 | 66.4
| JPT | 6.2 | 37.2 | 56.6
| YRI | 0.0 | 3.4 | 96.6
| ASW | 3.5 | 10.5 | 86.0
| CHB | 0.7 | 32.8 | 66.4
| CHD | 3.7 | 31.2 | 65.1
| GIH | 0.0 | 18.8 | 81.2
| LWK | 0.0 | 5.6 | 94.4
| MEX | 3.5 | 42.1 | 54.4
| MKK | 0.0 | 6.5 | 93.5
| TSI | 7.8 | 51.0 | 41.2
| HapMapRevision=28
}}
This [[SNP]] influences [[appearance]] and is located in the [[TPCN2]] gene. A study {{PMID|18488028}} of 5130 Icelanders (with further followup in another 2116 Icelanders and 1214 Dutch individuals) found significant association between a group of [[SNP]]s within the [[TPCN2]] gene.All of the discovered difference between blonde and brown hair could be explained by genotypes with rs3829241 and [[Rs35264875]]. The A allele was significantly associated with blonde versus brown hair with a P-value 6.2e-16

Summaried in [http://scienceblogs.com/gnxp/2009/03/genetics_of_human_pigmentation.php gnxp]
{{omim
|id=612267
|desc=SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10
|rsnum=3829241
}}
{{omim
|id=612163
|desc=TWO-PORE SEGMENT CHANNEL 2; TPCN2
|rsnum=3829241
}}
{{omim
|id=612163
|rsnum=3829241
|variant=0002
}}
{{ClinVar
|rsid=3829241
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=68855363
|CHROM=11
|GMAF=0.2358
|dbSNPBuildID=107
|SSR=0
|SAO=1
|VP=0x05016000000015051f110100
|GENEINFO=TPCN2:219931
|GENE_NAME=TPCN2
|GENE_ID=219931
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.68855363G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=612163.0002
|CLNSIG=5
|CLNCUI=C2677088
|CLNDBN=Skin/hair/eye pigmentation, variation in, 10
|Disease=Skin/hair/eye pigmentation
|CLNACC=RCV000000764.1
|Tags=PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7645; 0.2355
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C2677088:612267
|COMMON=1
}}
{{GET Evidence
|gene=TPCN2
|aa_change=Gly734Glu
|aa_change_short=G734E
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs3829241
|overall_frequency_n=3078
|overall_frequency_d=10756
|overall_frequency=0.286166
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=2
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualityscore_treatability=0
|in_omim=Y
|nblosum100=6
|autoscore=2
|webscore=N
|variant_evidence=0
|clinical_importance=0
|summary_short=Pigmentation allele.
}}

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