Product Details

SNP ID
rs147588155
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:200739945 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCGCCTGCAATCTGGCCTGGCTG[A/G]TGGCCAAAGCCTTTGGGACAGGTTA
Phenotype
MIM: 613775
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CAMSAP2 PubMed Links

Gene Details

Gene
CAMSAP2
Gene Name
calmodulin regulated spectrin associated protein family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297707.1 388 Missense Mutation ATG,GTG M40V NP_001284636.1
NM_001297708.1 388 Missense Mutation ATG,GTG M40V NP_001284637.1
NM_203459.2 388 Missense Mutation ATG,GTG M40V NP_982284.1
XM_005245041.3 388 Missense Mutation ATG,GTG M40V XP_005245098.1
XM_017000799.1 388 Nonsense Mutation TGA,TGG *15W XP_016856288.1

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