Product Details

SNP ID

rs200636289

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:29705603 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATAGATTTCCTGCTCAACTCCTT[C/T]GGGAATGGCTCCTTGAGGGATAATT

Phenotype

MIM: 601009

Polymorphism

C/T, 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	5114	Missense Mutation	AAA,GAA	K1732E	NP_001287954.1
NM_001301026.1	5114	Missense Mutation	AAA,GAA	K1589E	NP_001287955.1
NM_003257.4	5114	Missense Mutation	AAA,GAA	K1665E	NP_003248.3
NM_175610.3	5114	Missense Mutation	AAA,GAA	K1585E	NP_783297.2
XM_005254617.3	5114	Missense Mutation	AAA,GAA	K1758E	XP_005254674.2
XM_005254618.3	5114	Missense Mutation	AAA,GAA	K1665E	XP_005254675.1
XM_005254619.3	5114	Missense Mutation	AAA,GAA	K1678E	XP_005254676.2
XM_005254620.3	5114	Missense Mutation	AAA,GAA	K1678E	XP_005254677.2
XM_011521972.2	5114	Missense Mutation	AAA,GAA	K1758E	XP_011520274.2
XM_017022521.1	5114	Missense Mutation	AAA,GAA	K1775E	XP_016878010.1
XM_017022522.1	5114	Missense Mutation	AAA,GAA	K1775E	XP_016878011.1
XM_017022523.1	5114	Missense Mutation	AAA,GAA	K1775E	XP_016878012.1
XM_017022524.1	5114	Missense Mutation	AAA,GAA	K1695E	XP_016878013.1
XM_017022525.1	5114	Missense Mutation	AAA,GAA	K1686E	XP_016878014.1
XM_017022526.1	5114	Missense Mutation	AAA,GAA	K1682E	XP_016878015.1
XM_017022527.1	5114	Missense Mutation	AAA,GAA	K1680E	XP_016878016.1
XM_017022528.1	5114	Missense Mutation	AAA,GAA	K1669E	XP_016878017.1
XM_017022529.1	5114	Missense Mutation	AAA,GAA	K1665E	XP_016878018.1
XM_017022530.1	5114	Missense Mutation	AAA,GAA	K1585E	XP_016878019.1
XM_017022531.1	5114	Missense Mutation	AAA,GAA	K1349E	XP_016878020.1

View Full Product Details