Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGTCTCAGGGTCCAGGGTGGCCCTC[A/T]GCAGAAGCTGCAGGTACGTGAGGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607553 | ||||||||||||||||||||
Literature Links: |
EPPK1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
EPPK1 - epiplakin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031308.3 | 15452 | Missense Mutation | CAG,CTG | Q,L 5070 | NP_112598.3 | |
XM_017013889.1 | 15452 | Missense Mutation | CAG,CTG | Q,L 5103 | XP_016869378.1 | |
XM_017013890.1 | 15452 | Missense Mutation | CAG,CTG | Q,L 5070 | XP_016869379.1 | |
XM_017013891.1 | 15452 | Missense Mutation | CAG,CTG | Q,L 4142 | XP_016869380.1 | |
XM_017013892.1 | 15452 | Missense Mutation | CAG,CTG | Q,L 4036 | XP_016869381.1 |