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AACCCTACGCCGGGGTCCCTGGGGC[C/T]ATGGAAGGTAAGCCCACCCCCATCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 123610 MIM: 609356 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CRYBA1 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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CRYBA1 - crystallin beta A1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005208.4 | 96 | Missense Mutation | CCA,CTA | P,L 30 | NP_005199.2 | |
XM_017024198.1 | 96 | Missense Mutation | CCA,CTA | P,L 131 | XP_016879687.1 |
NUFIP2 - NUFIP2, FMR1 interacting protein 2 | ||||||
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There are no transcripts associated with this gene. |