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CGGCTGCGCAGTACAACCCGGAGCC[C/G]CCGGTAAGCCCCCTCTGCAACCAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114170 MIM: 123995 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CAPNS1 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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CAPNS1 - calpain small subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001003962.2 | 391 | Silent Mutation | CCC,CCG | P,P 80 | NP_001003962.1 | |
NM_001302632.1 | 391 | Silent Mutation | CCC,CCG | P,P 80 | NP_001289561.1 | |
NM_001302633.1 | 391 | UTR 5 | NP_001289562.1 | |||
NM_001749.3 | 391 | Silent Mutation | CCC,CCG | P,P 80 | NP_001740.1 | |
XM_005259295.1 | 391 | Silent Mutation | CCC,CCG | P,P 80 | XP_005259352.1 | |
XM_005259296.1 | 391 | Silent Mutation | CCC,CCG | P,P 80 | XP_005259353.1 | |
XM_011527359.1 | 391 | Silent Mutation | CCC,CCG | P,P 12 | XP_011525661.1 |
COX7A1 - cytochrome c oxidase subunit 7A1 | ||||||
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There are no transcripts associated with this gene. |