Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGTGGCCGATAGCTTCGATCGCCGC[G/T]TCTTCCCCATCTCCAAGGACCAGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603945 | ||||||||||||||||||||
Literature Links: |
EIF2B5 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
EIF2B5 - eukaryotic translation initiation factor 2B subunit epsilon | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003907.2 | 530 | Missense Mutation | GTC,TTC | V,F 56 | NP_003898.2 | |
XM_011513265.1 | 530 | Intron | XP_011511567.1 | |||
XM_011513266.2 | 530 | Intron | XP_011511568.1 |