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AGACACTTGTTTTGCCAGGTTTTAG[A/G]ATCACCTATGAGAGAAAAGAAGTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601009 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TJP1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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TJP1 - tight junction protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301025.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1807 | NP_001287954.1 | |
NM_001301026.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1664 | NP_001287955.1 | |
NM_003257.4 | 5300 | Missense Mutation | CCT,TCT | P,S 1720 | NP_003248.3 | |
NM_175610.3 | 5300 | Missense Mutation | CCT,TCT | P,S 1640 | NP_783297.2 | |
XM_005254617.3 | 5300 | Missense Mutation | CCT,TCT | P,S 1813 | XP_005254674.2 | |
XM_005254618.3 | 5300 | Missense Mutation | CCT,TCT | P,S 1740 | XP_005254675.1 | |
XM_005254619.3 | 5300 | Missense Mutation | CCT,TCT | P,S 1753 | XP_005254676.2 | |
XM_005254620.3 | 5300 | Missense Mutation | CCT,TCT | P,S 1733 | XP_005254677.2 | |
XM_011521972.2 | 5300 | Missense Mutation | CCT,TCT | P,S 1820 | XP_011520274.2 | |
XM_017022521.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1850 | XP_016878010.1 | |
XM_017022522.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1837 | XP_016878011.1 | |
XM_017022523.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1830 | XP_016878012.1 | |
XM_017022524.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1770 | XP_016878013.1 | |
XM_017022525.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1761 | XP_016878014.1 | |
XM_017022526.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1757 | XP_016878015.1 | |
XM_017022527.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1755 | XP_016878016.1 | |
XM_017022528.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1731 | XP_016878017.1 | |
XM_017022529.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1727 | XP_016878018.1 | |
XM_017022530.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1660 | XP_016878019.1 | |
XM_017022531.1 | 5300 | Missense Mutation | CCT,TCT | P,S 1424 | XP_016878020.1 |