Product Details

SNP ID
rs147212718
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:135811591 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGAAACAGTATGATGTAGTGATT[C/G]GCATCACACTTCTCCAGCTCCTGTG
Phenotype
MIM: 613774
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CAMSAP1 PubMed Links

Gene Details

Gene
CAMSAP1
Gene Name
calmodulin regulated spectrin associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015447.3 4053 Silent Mutation GCC,GCG A1509A NP_056262.3
XM_005263396.3 4053 Silent Mutation GCC,GCG A1520A XP_005263453.1
XM_005263397.1 4053 Silent Mutation GCC,GCG A1231A XP_005263454.1
XM_011518272.1 4053 Silent Mutation GCC,GCG A1376A XP_011516574.1
XM_011518273.2 4053 Silent Mutation GCC,GCG A1321A XP_011516575.1
XM_011518274.1 4053 Silent Mutation GCC,GCG A1310A XP_011516576.1
XM_017014301.1 4053 Silent Mutation GCC,GCG A1376A XP_016869790.1
XM_017014302.1 4053 Silent Mutation GCC,GCG A1376A XP_016869791.1

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