Product Details

SNP ID
rs201421228
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7606521 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGACCGAGCAGGAAGCGGCCCAG[C/G]GAGCCTCTCCAGCAGCCCCTGCAGA
Phenotype
MIM: 612685
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CAMSAP3 PubMed Links

Gene Details

Gene
CAMSAP3
Gene Name
calmodulin regulated spectrin associated protein family member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080429.2 645 Missense Mutation CGA,GGA R191G NP_001073898.1
NM_020902.1 645 Missense Mutation CGA,GGA R191G NP_065953.1
XM_005272491.3 645 Missense Mutation CGA,GGA R191G XP_005272548.1
XM_011528154.2 645 Missense Mutation CGA,GGA R191G XP_011526456.1
XM_017027036.1 645 Missense Mutation CGA,GGA R191G XP_016882525.1

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