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TGGCCGGCTGTCCACCACTACCACC[T/C]GAAACCGCCGGCCCTCTGTCCAAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606687 MIM: 604883 MIM: 605963 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EIF2B4 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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EIF2B4 - eukaryotic translation initiation factor 2B subunit delta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001034116.1 | 1210 | Missense Mutation | CAG,CGG | Q,R 357 | NP_001029288.1 | |
NM_001318965.1 | 1210 | Missense Mutation | CAG,CGG | Q,R 378 | NP_001305894.1 | |
NM_001318966.1 | 1210 | Missense Mutation | CAG,CGG | Q,R 342 | NP_001305895.1 | |
NM_001318967.1 | 1210 | Missense Mutation | CAG,CGG | Q,R 326 | NP_001305896.1 | |
NM_001318968.1 | 1210 | Missense Mutation | CAG,CGG | Q,R 162 | NP_001305897.1 | |
NM_001318969.1 | 1210 | Missense Mutation | CAG,CGG | Q,R 151 | NP_001305898.1 | |
NM_015636.3 | 1210 | Missense Mutation | CAG,CGG | Q,R 356 | NP_056451.3 | |
NM_172195.3 | 1210 | Missense Mutation | CAG,CGG | Q,R 377 | NP_751945.2 | |
XM_006712132.1 | 1210 | Missense Mutation | CAG,CGG | Q,R 341 | XP_006712195.1 | |
XM_011533147.2 | 1210 | Missense Mutation | CAG,CGG | Q,R 151 | XP_011531449.1 |
GTF3C2 - general transcription factor IIIC subunit 2 | ||||||
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There are no transcripts associated with this gene. |
LOC105374363 - uncharacterized LOC105374363 | ||||||
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There are no transcripts associated with this gene. |
SNX17 - sorting nexin 17 | ||||||
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There are no transcripts associated with this gene. |