Product Details

SNP ID
rs199695046
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7608144 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCAGATCCGATACCGCAAGGAC[C/T]GTGTGGTGGCGCGACGTGCCCCCTG
Phenotype
MIM: 612685
Polymorphism
C/T, Transition 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_001080429.2 795 Missense Mutation CGT,TGT R241C NP_001073898.1
NM_020902.1 795 Missense Mutation CGT,TGT R214C NP_065953.1
XM_005272491.3 795 Missense Mutation CGT,TGT R230C XP_005272548.1
XM_011528154.2 795 Missense Mutation CGT,TGT R241C XP_011526456.1
XM_017027036.1 795 Missense Mutation CGT,TGT R241C XP_016882525.1
Gene
MIR6792
Gene Name
microRNA 6792
There are no transcripts associated with this gene.

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