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CATCATCTTCTGCTTTTCTCTTTCC[A/G]GAAGGTTCACCTTCCTAAACAGATA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610507 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LEO1 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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LEO1 - LEO1 homolog, Paf1/RNA polymerase II complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286430.1 | 1963 | Silent Mutation | TCC,TCT | S,S 577 | NP_001273359.1 | |
NM_001323903.1 | 1963 | Missense Mutation | CCG,CTG | P,L 670 | NP_001310832.1 | |
NM_001323904.1 | 1963 | Missense Mutation | CCG,CTG | P,L 636 | NP_001310833.1 | |
NM_138792.3 | 1963 | Silent Mutation | TCC,TCT | S,S 637 | NP_620147.1 | |
XM_017021911.1 | 1963 | UTR 3 | XP_016877400.1 |