Product Details

SNP ID
rs116363086
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:69509287 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGACCTCTCCTCCAGGAGTGATTC[G/T]GATCCTGTCTATGCTCATTATTGTG
Phenotype
MIM: 602876
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
OCLN PubMed Links

Gene Details

Gene
OCLN
Gene Name
occludin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001205254.1 633 Missense Mutation CGG,CTG R66L NP_001192183.1
NM_001205255.1 633 Intron NP_001192184.1
NM_002538.3 633 Missense Mutation CGG,CTG R66L NP_002529.1
XM_017008913.1 633 Missense Mutation CGG,CTG R66L XP_016864402.1
XM_017008914.1 633 Missense Mutation CGG,CTG R66L XP_016864403.1

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