Product Details

SNP ID
rs201378122
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:69509323 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCTCATTATTGTGATGTGCATTG[C/T]CATCTTTGCCTGTGTGGCCTCCACG
Phenotype
MIM: 602876
Polymorphism
C/T, Transition 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_001205254.1 669 Missense Mutation GCC,GTC A78V NP_001192183.1
NM_001205255.1 669 Intron NP_001192184.1
NM_002538.3 669 Missense Mutation GCC,GTC A78V NP_002529.1
XM_017008913.1 669 Missense Mutation GCC,GTC A78V XP_016864402.1
XM_017008914.1 669 Missense Mutation GCC,GTC A78V XP_016864403.1

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