Product Details

SNP ID
rs720519
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:70654634 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTATCAAAAAGAATATGCTTTT[C/G]TGATGGGGAAGTGACAAAAAAAAAA
Phenotype
MIM: 612516
Polymorphism
C/G, Transversion 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 6777 UTR 3 NP_001008225.1
NM_018003.2 6777 UTR 3 NP_060473.2
XM_005254529.4 6777 Intron XP_005254586.1
XM_011521752.2 6777 UTR 3 XP_011520054.2
XM_011521753.2 6777 Intron XP_011520055.2
XM_011521754.2 6777 Intron XP_011520056.1
XM_017022394.1 6777 Intron XP_016877883.1
XM_017022395.1 6777 Intron XP_016877884.1

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