Product Details

SNP ID

rs78551559

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:70664767 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGTAGGTGAGTTGGGAAAGGCC[A/G]TTGAGTGCCTGTTTTAATCTTTCCA

Phenotype

MIM: 612516

Polymorphism

A/G, 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	3972	Silent Mutation	AAC,AAT	N1323N	NP_001008225.1
NM_018003.2	3972	Silent Mutation	AAC,AAT	N1336N	NP_060473.2
XM_005254529.4	3972	Silent Mutation	AAC,AAT	N1312N	XP_005254586.1
XM_011521752.2	3972	Silent Mutation	AAC,AAT	N1356N	XP_011520054.2
XM_011521753.2	3972	Silent Mutation	AAC,AAT	N1345N	XP_011520055.2
XM_011521754.2	3972	Silent Mutation	AAC,AAT	N1084N	XP_011520056.1
XM_017022394.1	3972	Silent Mutation	AAC,AAT	N1325N	XP_016877883.1
XM_017022395.1	3972	Silent Mutation	AAC,AAT	N1319N	XP_016877884.1

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