Product Details

SNP ID
rs143274111
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:56100284 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGCAGGAAGCACTCGGTTTGTCC[A/G]CAGAGGTTCTCCAGATAGAACTGGG
Phenotype
MIM: 615189
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ANKRD55 PubMed Links

Gene Details

Gene
ANKRD55
Gene Name
ankyrin repeat domain 55
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024669.2 1210 Missense Mutation CGG,TGG R582W NP_078945.2
XM_011543646.1 1210 Missense Mutation CGG,TGG R355W XP_011541948.1
XM_017009852.1 1210 Missense Mutation CGG,TGG R591W XP_016865341.1
XM_017009853.1 1210 Missense Mutation CGG,TGG R582W XP_016865342.1
XM_017009854.1 1210 Missense Mutation CGG,TGG R429W XP_016865343.1

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