Product Details

SNP ID
rs1138597
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.8:143857366 on Build GRCh38
Set Membership
Validated
Context Sequence [VIC/FAM]
TTGTTCAGAATTTTTCCTAGTAAAT[G/T]ACTACAAAAAGTTCTTCTCCACAAC
Phenotype
MIM: 607553
Polymorphism
G/T, Transversion 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 16131 UTR 3 NP_112598.3
XM_017013889.1 16131 UTR 3 XP_016869378.1
XM_017013890.1 16131 UTR 3 XP_016869379.1
XM_017013891.1 16131 UTR 3 XP_016869380.1
XM_017013892.1 16131 UTR 3 XP_016869381.1

View Full Product Details