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CCTTGGAACCACAGGTGTTTGTTGC[C/T]GGTTTCCTGCTTCTCGATCAACTCT
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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EPPK1 - epiplakin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031308.3 | 6745 | Missense Mutation | NP_112598.3 | |||
XM_017013889.1 | 6745 | Missense Mutation | XP_016869378.1 | |||
XM_017013890.1 | 6745 | Missense Mutation | XP_016869379.1 | |||
XM_017013891.1 | 6745 | Missense Mutation | XP_016869380.1 | |||
XM_017013892.1 | 6745 | Missense Mutation | XP_016869381.1 |