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GGCCAGGTAGCCTTGTTTCACCACC[A/G]TGCCACTTAACTCCACAGTGCTCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603907 MIM: 603930 MIM: 608007 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EIF2S1 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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EIF2S1 - eukaryotic translation initiation factor 2 subunit alpha | ||||||
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There are no transcripts associated with this gene. |
PLEK2 - pleckstrin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016445.2 | 881 | Missense Mutation | ACG,ATG | T,M 247 | NP_057529.1 | |
XM_011536644.2 | 881 | Intron | XP_011534946.1 |