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CTCTGCTACGGCGGCGCAGAAATGA[A/G]GCAGAAGCGGAAAGGTGCGAAAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612722 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ELP3 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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ELP3 - elongator acetyltransferase complex subunit 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284220.1 | 153 | UTR 5 | NP_001271149.1 | |||
NM_001284222.1 | 153 | Intron | NP_001271151.1 | |||
NM_001284224.1 | 153 | UTR 5 | NP_001271153.1 | |||
NM_001284225.1 | 153 | UTR 5 | NP_001271154.1 | |||
NM_001284226.1 | 153 | UTR 5 | NP_001271155.1 | |||
NM_018091.5 | 153 | Missense Mutation | AAG,AGG | K,R 2 | NP_060561.3 | |
XM_006716354.2 | 153 | UTR 5 | XP_006716417.1 | |||
XM_017013604.1 | 153 | Missense Mutation | AAG,AGG | K,R 2 | XP_016869093.1 |
NUGGC - nuclear GTPase, germinal center associated | ||||||
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There are no transcripts associated with this gene. |