Product Details

SNP ID
rs150551368
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:135811529 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGTAGATTTCCTCAGTATCAGGA[G/T]AGTAGCAGTAAAGCGCCCTGAACTG
Phenotype
MIM: 613774
Polymorphism
G/T, 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 4115 Missense Mutation TAT,TCT Y1530S NP_056262.3
XM_005263396.3 4115 Missense Mutation TAT,TCT Y1541S XP_005263453.1
XM_005263397.1 4115 Missense Mutation TAT,TCT Y1252S XP_005263454.1
XM_011518272.1 4115 Missense Mutation TAT,TCT Y1397S XP_011516574.1
XM_011518273.2 4115 Missense Mutation TAT,TCT Y1342S XP_011516575.1
XM_011518274.1 4115 Missense Mutation TAT,TCT Y1331S XP_011516576.1
XM_017014301.1 4115 Missense Mutation TAT,TCT Y1397S XP_016869790.1
XM_017014302.1 4115 Missense Mutation TAT,TCT Y1397S XP_016869791.1

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