{{Rsnum
|rsid=2064318
|Gene=TULP1
|Chromosome=6
|position=35509248
|Orientation=plus
|GMAF=0.1465
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=TULP1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 75.4 | 19.7 | 4.9
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 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
}}{{Venter SNP
|rsid=2064318
|allele=G
|frequency=
|uid=1103652839703
|type=homozygous_SNP
|hugo=TULP1
|ensembl gene=ENSG00000112041
|ensembl transcript=ENST00000229771
|sift=TOLERATED
|disease=Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14) (MIM:600132); an autosomal recessive form of vision defect.
}}

{{ClinVar
|rsid=2064318
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=35477025
|CHROM=6
|GMAF=0.1461
|dbSNPBuildID=94
|SSR=0
|SAO=0
|VP=050168000a0507051f100100
|GENEINFO=TULP1:7287
|GENE_NAME=TULP1
|GENE_ID=7287
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.35477025C>G
|CLNSIG=1
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
}}

{{PMID Auto
|PMID=19339744
|Title=Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
|OA=1
}}

{{GET Evidence
|gene=TULP1
|aa_change=Lys261Asn
|aa_change_short=K261N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2064318
|overall_frequency_n=9079
|overall_frequency_d=10758
|overall_frequency=0.84393
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=95
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=4
}}

{{on chip | HumanOmni1Quad}}