Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACTCACGGCCAGCTGTTGCTCCAGA[C/G]ATTTCACTTGGTGCTGCAGAGTGTC
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 4058 | Missense Mutation | TCT,TGT | S,C 1352 | NP_001008225.1 | |
NM_018003.2 | 4058 | Missense Mutation | TCT,TGT | S,C 1365 | NP_060473.2 | |
XM_005254529.4 | 4058 | Missense Mutation | TCT,TGT | S,C 1341 | XP_005254586.1 | |
XM_011521752.2 | 4058 | Missense Mutation | TCT,TGT | S,C 1385 | XP_011520054.2 | |
XM_011521753.2 | 4058 | Missense Mutation | TCT,TGT | S,C 1374 | XP_011520055.2 | |
XM_011521754.2 | 4058 | Missense Mutation | TCT,TGT | S,C 1113 | XP_011520056.1 | |
XM_017022394.1 | 4058 | Missense Mutation | TCT,TGT | S,C 1354 | XP_016877883.1 | |
XM_017022395.1 | 4058 | Missense Mutation | TCT,TGT | S,C 1348 | XP_016877884.1 |