Product Details

SNP ID

rs202155254

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:29701684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACACTTGTTTTGCCAGGTTTTAG[A/G]ATCACCTATGAGAGAAAAGAAGTTG

Phenotype

MIM: 601009

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TJP1 PubMed Links

Gene Details

Gene

TJP1

Gene Name

tight junction protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301025.1	5300	Missense Mutation	CCT,TCT	P1807S	NP_001287954.1
NM_001301026.1	5300	Missense Mutation	CCT,TCT	P1664S	NP_001287955.1
NM_003257.4	5300	Missense Mutation	CCT,TCT	P1720S	NP_003248.3
NM_175610.3	5300	Missense Mutation	CCT,TCT	P1640S	NP_783297.2
XM_005254617.3	5300	Missense Mutation	CCT,TCT	P1813S	XP_005254674.2
XM_005254618.3	5300	Missense Mutation	CCT,TCT	P1740S	XP_005254675.1
XM_005254619.3	5300	Missense Mutation	CCT,TCT	P1753S	XP_005254676.2
XM_005254620.3	5300	Missense Mutation	CCT,TCT	P1733S	XP_005254677.2
XM_011521972.2	5300	Missense Mutation	CCT,TCT	P1820S	XP_011520274.2
XM_017022521.1	5300	Missense Mutation	CCT,TCT	P1850S	XP_016878010.1
XM_017022522.1	5300	Missense Mutation	CCT,TCT	P1837S	XP_016878011.1
XM_017022523.1	5300	Missense Mutation	CCT,TCT	P1830S	XP_016878012.1
XM_017022524.1	5300	Missense Mutation	CCT,TCT	P1770S	XP_016878013.1
XM_017022525.1	5300	Missense Mutation	CCT,TCT	P1761S	XP_016878014.1
XM_017022526.1	5300	Missense Mutation	CCT,TCT	P1757S	XP_016878015.1
XM_017022527.1	5300	Missense Mutation	CCT,TCT	P1755S	XP_016878016.1
XM_017022528.1	5300	Missense Mutation	CCT,TCT	P1731S	XP_016878017.1
XM_017022529.1	5300	Missense Mutation	CCT,TCT	P1727S	XP_016878018.1
XM_017022530.1	5300	Missense Mutation	CCT,TCT	P1660S	XP_016878019.1
XM_017022531.1	5300	Missense Mutation	CCT,TCT	P1424S	XP_016878020.1

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