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CTGATTCCTATGACAGCTTGAGTGA[A/G]GCTGCTGAGAGGCCTCAGGGCCTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
21 submissions
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Phenotype: |
MIM: 607629 MIM: 604832 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
APH1A 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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APH1A - aph-1 homolog A, gamma-secretase subunit | ||||||
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There are no transcripts associated with this gene. |
C1orf54 - chromosome 1 open reading frame 54 | ||||||
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There are no transcripts associated with this gene. |
CA14 - carbonic anhydrase 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012113.2 | 762 | Silent Mutation | GAA,GAG | E,E 149 | NP_036245.1 | |
XM_005245059.2 | 762 | Silent Mutation | GAA,GAG | E,E 149 | XP_005245116.1 | |
XM_005245060.2 | 762 | Silent Mutation | GAA,GAG | E,E 149 | XP_005245117.1 | |
XM_006711259.2 | 762 | Silent Mutation | GAA,GAG | E,E 149 | XP_006711322.1 | |
XM_006711261.2 | 762 | Silent Mutation | GAA,GAG | E,E 93 | XP_006711324.1 | |
XM_011509379.2 | 762 | Silent Mutation | GAA,GAG | E,E 135 | XP_011507681.1 | |
XM_017000893.1 | 762 | Silent Mutation | GAA,GAG | E,E 93 | XP_016856382.1 | |
XM_017000894.1 | 762 | Silent Mutation | GAA,GAG | E,E 149 | XP_016856383.1 | |
XM_017000895.1 | 762 | Silent Mutation | GAA,GAG | E,E 149 | XP_016856384.1 | |
XM_017000896.1 | 762 | Silent Mutation | GAA,GAG | E,E 93 | XP_016856385.1 |