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TTGAAACAGCACGTGCAGACCATCC[A/G]AAGCCTGTAACTGTGAAACCAGTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 submissions
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Phenotype: |
MIM: 607629 MIM: 615782 | ||||||||||||||||||||||||||||||||||||||
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077628.2 | 413 | Intron | NP_001071096.1 | |||
NM_001243771.1 | 413 | Intron | NP_001230700.1 | |||
NM_001243772.1 | 413 | Intron | NP_001230701.1 | |||
NM_016022.3 | 413 | Intron | NP_057106.2 | |||
XM_017001417.1 | 413 | Intron | XP_016856906.1 |
C1orf54 - chromosome 1 open reading frame 54 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301039.1 | 413 | Silent Mutation | CCA,CCG | P,P 88 | NP_001287968.1 | |
NM_001301040.1 | 413 | Silent Mutation | CCA,CCG | P,P 88 | NP_001287969.1 | |
NM_001301041.1 | 413 | Silent Mutation | CCA,CCG | P,P 60 | NP_001287970.1 | |
NM_001301042.1 | 413 | Silent Mutation | CCA,CCG | P,P 88 | NP_001287971.1 | |
NM_024579.3 | 413 | Silent Mutation | CCA,CCG | P,P 88 | NP_078855.2 | |
XM_011509984.2 | 413 | Silent Mutation | CCA,CCG | P,P 60 | XP_011508286.1 |
CIART - circadian associated repressor of transcription | ||||||
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There are no transcripts associated with this gene. |