Product Details

SNP ID
rs143220817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:70657085 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACAAGCCCCTGCCGCATTTGTA[C/T]GATCTGGAGCAGAGCCTCCTGAACA
Phenotype
MIM: 612516
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
UACA PubMed Links

Gene Details

Gene
UACA
Gene Name
uveal autoantigen with coiled-coil domains and ankyrin repeats
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008224.1 4186 Missense Mutation ATA,GTA I1395V NP_001008225.1
NM_018003.2 4186 Missense Mutation ATA,GTA I1408V NP_060473.2
XM_005254529.4 4186 Missense Mutation ATA,GTA I1384V XP_005254586.1
XM_011521752.2 4186 Missense Mutation ATA,GTA I1428V XP_011520054.2
XM_011521753.2 4186 Missense Mutation ATA,GTA I1417V XP_011520055.2
XM_011521754.2 4186 Missense Mutation ATA,GTA I1156V XP_011520056.1
XM_017022394.1 4186 Missense Mutation ATA,GTA I1397V XP_016877883.1
XM_017022395.1 4186 Missense Mutation ATA,GTA I1391V XP_016877884.1

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