Product Details

SNP ID
rs185628778
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:56100296 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCGGTTTGTCCGCAGAGGTTCTC[A/C]AGATAGAACTGGGAAGAAAGAATAG
Phenotype
MIM: 615189
Polymorphism
A/C, Transversion 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 1198 Nonsense Mutation GGA,TGA G578* NP_078945.2
XM_011543646.1 1198 Nonsense Mutation GGA,TGA G351* XP_011541948.1
XM_017009852.1 1198 Nonsense Mutation GGA,TGA G587* XP_016865341.1
XM_017009853.1 1198 Nonsense Mutation GGA,TGA G578* XP_016865342.1
XM_017009854.1 1198 Nonsense Mutation GGA,TGA G425* XP_016865343.1

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