Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGGGGAATCCATGGAGCTGGTCC[A/G]CTTGAGCCGCAGGCGGGCACGGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602711 MIM: 603483 MIM: 603819 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANKHD1-EIF4EBP3 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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ANKHD1-EIF4EBP3 - ANKHD1-EIF4EBP3 readthrough | ||||||
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There are no transcripts associated with this gene. |
APBB3 - amyloid beta precursor protein binding family B member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006051.3 | 1662 | Missense Mutation | CGG,TGG | R,W 444 | NP_006042.3 | |
NM_133172.2 | 1662 | Missense Mutation | CGG,TGG | R,W 442 | NP_573418.2 | |
NM_133173.2 | 1662 | Missense Mutation | CGG,TGG | R,W 437 | NP_573419.2 | |
NM_133174.2 | 1662 | Missense Mutation | CGG,TGG | R,W 435 | NP_573420.2 |
EIF4EBP3 - eukaryotic translation initiation factor 4E binding protein 3 | ||||||
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There are no transcripts associated with this gene. |
MIR6831 - microRNA 6831 | ||||||
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There are no transcripts associated with this gene. |
SLC35A4 - solute carrier family 35 member A4 | ||||||
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There are no transcripts associated with this gene. |
SRA1 - steroid receptor RNA activator 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001035235.3 | 1662 | Intron | NP_001030312.2 | |||
NM_001253764.1 | 1662 | Intron | NP_001240693.1 |