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AGTTGGACTGCTCAAAGGCGACCCA[A/G]CTGGATACAAGAAGGACCATGAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 123631 MIM: 600929 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CRYBA4 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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CRYBA4 - crystallin beta A4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001886.2 | 40 | Intron | NP_001877.1 | |||
XM_006724140.3 | 40 | UTR 5 | XP_006724203.1 | |||
XM_017028598.1 | 40 | Intron | XP_016884087.1 |
CRYBB1 - crystallin beta B1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001887.3 | 40 | Silent Mutation | CCC,CCT | P,P 100 | NP_001878.1 | |
XM_011529899.2 | 40 | Silent Mutation | CCC,CCT | P,P 100 | XP_011528201.1 |