Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
27 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 | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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APH1A - aph-1 homolog A, gamma-secretase subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077628.2 | 1005 | Silent Mutation | GGA,GGC | G,G 202 | NP_001071096.1 | |
NM_001243771.1 | 1005 | Silent Mutation | GGA,GGC | G,G 145 | NP_001230700.1 | |
NM_001243772.1 | 1005 | Silent Mutation | GGA,GGC | G,G 132 | NP_001230701.1 | |
NM_016022.3 | 1005 | Silent Mutation | GGA,GGC | G,G 202 | NP_057106.2 | |
XM_017001417.1 | 1005 | Silent Mutation | GGA,GGC | G,G 145 | XP_016856906.1 |
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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There are no transcripts associated with this gene. |
Set Membership: |
HapMap JSNP |