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CCATGAATGATATTTTCATGAGCCT[C/T]GGCCACCTTCTCCAATGGATATTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
19 submissions
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Phenotype: |
MIM: 123691 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CRYZ 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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CRYZ - crystallin zeta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130042.1 | 917 | Missense Mutation | AAG,GAG | K,E 310 | NP_001123514.1 | |
NM_001130043.1 | 917 | Missense Mutation | AAG,GAG | K,E 276 | NP_001123515.1 | |
NM_001134759.1 | 917 | Missense Mutation | AAG,GAG | K,E 173 | NP_001128231.1 | |
NM_001889.3 | 917 | Missense Mutation | AAG,GAG | K,E 310 | NP_001880.2 | |
XM_005270491.4 | 917 | Missense Mutation | AAG,GAG | K,E 173 | XP_005270548.1 | |
XM_011540747.1 | 917 | Missense Mutation | AAG,GAG | K,E 310 | XP_011539049.1 | |
XM_017000367.1 | 917 | Missense Mutation | AAG,GAG | K,E 276 | XP_016855856.1 | |
XM_017000368.1 | 917 | Missense Mutation | AAG,GAG | K,E 173 | XP_016855857.1 |