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TCTGGTTGCAGCTGTAGTTGCAAAG[A/G]CTACACCGAAAAGGTTTGTCACCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606687 MIM: 605119 MIM: 605963 MIM: 613598 | ||||||||||||||||||||
Literature Links: |
EIF2B4 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 |
EIF2B4 - eukaryotic translation initiation factor 2B subunit delta | ||||||
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There are no transcripts associated with this gene. |
PPM1G - protein phosphatase, Mg2+/Mn2+ dependent 1G | ||||||
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There are no transcripts associated with this gene. |
SNX17 - sorting nexin 17 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267059.1 | 1482 | Intron | NP_001253988.1 | |||
NM_001267060.1 | 1482 | Intron | NP_001253989.1 | |||
NM_001267061.1 | 1482 | Intron | NP_001253990.1 | |||
NM_014748.3 | 1482 | Intron | NP_055563.1 | |||
XM_011533203.1 | 1482 | Intron | XP_011531505.1 | |||
XM_017005405.1 | 1482 | Intron | XP_016860894.1 |
ZNF513 - zinc finger protein 513 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001201459.1 | 1482 | Silent Mutation | AGA,AGG | R,R 385 | NP_001188388.1 | |
NM_144631.5 | 1482 | Silent Mutation | AGA,AGG | R,R 447 | NP_653232.3 | |
XM_005264142.2 | 1482 | Silent Mutation | AGA,AGG | R,R 385 | XP_005264199.1 | |
XM_005264143.3 | 1482 | Silent Mutation | AGA,AGG | R,R 279 | XP_005264200.1 |