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GCGTTATAGATGCCACCCGGGATTA[C/T]CCTATCCTCCTCCTTGGGGCTCCAG
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 123855 | |||||||||||||||||||||||||||||
Literature Links: |
CST1 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 | |||
EUR
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African American - Not Available | YRI (Yoruba) - Not Available | |||
EAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
SAS - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
AFR - Not Available | |||||
AMR
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CST1 - cystatin SN | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001898.2 | 156 | Missense Mutation | ATA,GTA | I,V 29 | NP_001889.2 |