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CCATCTCATCCGAAACAGCGGGGTT[C/T]GGCTTCTCCTATGGCAGGATCTGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 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 |
---|---|---|
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 |
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. |
CIART - circadian associated repressor of transcription | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300838.1 | 331 | Missense Mutation | TCG,TTG | S,L 85 | NP_001287767.1 | |
NM_001300839.1 | 331 | UTR 5 | NP_001287768.1 | |||
NM_001300840.1 | 331 | UTR 5 | NP_001287769.1 | |||
NM_001300841.1 | 331 | UTR 5 | NP_001287770.1 | |||
NM_144697.3 | 331 | Missense Mutation | TCG,TTG | S,L 85 | NP_653298.1 | |
XM_017000378.1 | 331 | UTR 5 | XP_016855867.1 |