{{Rsnum
|rsid=2309428
|Gene=TJP2
|Chromosome=9
|position=69228107
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.1938
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=TJP2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 68.2 | 30.9 | 0.9
| HCB | 83.8 | 16.2 | 0.0
| JPT | 82.3 | 16.8 | 0.9
| YRI | 50.0 | 42.5 | 7.5
| ASW | 39.3 | 57.1 | 3.6
| CHB | 83.8 | 16.2 | 0.0
| CHD | 77.8 | 22.2 | 0.0
| GIH | 66.0 | 27.0 | 7.0
| LWK | 40.9 | 41.8 | 17.3
| MEX | 66.7 | 31.6 | 1.8
| MKK | 35.6 | 54.4 | 10.1
| TSI | 63.4 | 30.7 | 5.9
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2309428
|allele=A
|frequency=0.992
|uid=1103652088376
|type=homozygous_SNP
|hugo=TJP2
|ensembl gene=ENSG00000119139
|ensembl transcript=ENST00000377245
|sift=TOLERATED
|disease=Defects in TJP2 are involved in familial hypercholanemia (FHCA) (MIM:607748). FHCA is a disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.
}}

{{PMID Auto
|PMID=20403199
|Title=High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
|OA=1
}}

{{GET Evidence
|gene=TJP2
|aa_change=Asp513Glu
|aa_change_short=D513E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2309428
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-2
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}