Product Details

SNP ID

rs201472976

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7605272 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGCCCTTCTATACCGACCAGTA[C/T]GCGCAGGAGCATGTGAAGCCCCCGG

Phenotype

MIM: 612685

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CAMSAP3 PubMed Links

Additional Information

For this assay, SNP(s) [rs565740044] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	269	Silent Mutation	TAC,TAT	Y65Y	NP_001073898.1
NM_020902.1	269	Silent Mutation	TAC,TAT	Y65Y	NP_065953.1
XM_005272491.3	269	Silent Mutation	TAC,TAT	Y65Y	XP_005272548.1
XM_011528154.2	269	Silent Mutation	TAC,TAT	Y65Y	XP_011526456.1
XM_017027036.1	269	Silent Mutation	TAC,TAT	Y65Y	XP_016882525.1

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