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TCACCAGCCACCACCGCTTGCTGTG[A/G]TCCAGAACCTGCCAAGAGTCACCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
16 submissions
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Phenotype: |
MIM: 614989 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPS8L3 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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EPS8L3 - EPS8 like 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319952.1 | 1590 | Silent Mutation | GAC,GAT | D,D 418 | NP_001306881.1 | |
NM_024526.3 | 1590 | Silent Mutation | GAC,GAT | D,D 451 | NP_078802.2 | |
NM_133181.3 | 1590 | Silent Mutation | GAC,GAT | D,D 481 | NP_573444.2 | |
NM_139053.2 | 1590 | Silent Mutation | GAC,GAT | D,D 482 | NP_620641.1 | |
XM_011542132.1 | 1590 | Silent Mutation | GAC,GAT | D,D 490 | XP_011540434.1 | |
XM_011542133.1 | 1590 | Silent Mutation | GAC,GAT | D,D 489 | XP_011540435.1 | |
XM_011542134.2 | 1590 | Silent Mutation | GAC,GAT | D,D 456 | XP_011540436.1 | |
XM_011542135.2 | 1590 | Silent Mutation | GAC,GAT | D,D 426 | XP_011540437.1 | |
XM_017002327.1 | 1590 | Silent Mutation | GAC,GAT | D,D 490 | XP_016857816.1 | |
XM_017002328.1 | 1590 | Silent Mutation | GAC,GAT | D,D 460 | XP_016857817.1 | |
XM_017002329.1 | 1590 | Silent Mutation | GAC,GAT | D,D 452 | XP_016857818.1 |