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TATGGTCCTGCCGATGTGGAAGACA[C/T]TACAGGAAGTGGAGCTACAGATAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600655 MIM: 157655 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EEF1B2 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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EEF1B2 - eukaryotic translation elongation factor 1 beta 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001037663.1 | 646 | Intron | NP_001032752.1 | |||
NM_001959.3 | 646 | Missense Mutation | ACT,ATT | T,I 87 | NP_001950.1 | |
NM_021121.3 | 646 | Intron | NP_066944.1 |
NDUFS1 - NADH:ubiquinone oxidoreductase core subunit S1 | ||||||
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There are no transcripts associated with this gene. |
SNORA41 - small nucleolar RNA, H/ACA box 41 | ||||||
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There are no transcripts associated with this gene. |
SNORD51 - small nucleolar RNA, C/D box 51 | ||||||
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There are no transcripts associated with this gene. |