Product Details

SNP ID
rs117882320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143866785 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTTCTCGATCAACTCTAAGATGA[A/G]CTGCGCTACCGTCTGCAGTGCCCGT
Phenotype
MIM: 607553
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EPPK1 PubMed Links

Gene Details

Gene
EPPK1
Gene Name
epiplakin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031308.3 6712 Missense Mutation CTC,TTC L2157F NP_112598.3
XM_017013889.1 6712 Missense Mutation CTC,TTC L2190F XP_016869378.1
XM_017013890.1 6712 Missense Mutation CTC,TTC L2157F XP_016869379.1
XM_017013891.1 6712 Missense Mutation CTC,TTC L1229F XP_016869380.1
XM_017013892.1 6712 Missense Mutation CTC,TTC L2190F XP_016869381.1

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