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GCTGCGACTGGCTGTGTCCTGCGCC[A/G]GCGGCTCCCCGCTGGACTTCATGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 130592 MIM: 616408 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EEF1D 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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EEF1D - eukaryotic translation elongation factor 1 delta | ||||||
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There are no transcripts associated with this gene. |
PYCRL - pyrroline-5-carboxylate reductase-like | ||||||
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There are no transcripts associated with this gene. |
TIGD5 - tigger transposable element derived 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032862.4 | 1324 | Missense Mutation | AGC,GGC | S,G 442 | NP_116251.4 |