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AGTTGGGAAAGGCCATTGAGTGCCT[C/G]TTTTAATCTTTCCACATCATTAAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612516 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UACA 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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UACA - uveal autoantigen with coiled-coil domains and ankyrin repeats | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008224.1 | 3961 | Missense Mutation | CAG,GAG | Q,E 1320 | NP_001008225.1 | |
NM_018003.2 | 3961 | Missense Mutation | CAG,GAG | Q,E 1333 | NP_060473.2 | |
XM_005254529.4 | 3961 | Missense Mutation | CAG,GAG | Q,E 1309 | XP_005254586.1 | |
XM_011521752.2 | 3961 | Missense Mutation | CAG,GAG | Q,E 1353 | XP_011520054.2 | |
XM_011521753.2 | 3961 | Missense Mutation | CAG,GAG | Q,E 1342 | XP_011520055.2 | |
XM_011521754.2 | 3961 | Missense Mutation | CAG,GAG | Q,E 1081 | XP_011520056.1 | |
XM_017022394.1 | 3961 | Missense Mutation | CAG,GAG | Q,E 1322 | XP_016877883.1 | |
XM_017022395.1 | 3961 | Missense Mutation | CAG,GAG | Q,E 1316 | XP_016877884.1 |