Product Details

SNP ID

rs4459050

Assay Type

Functionally Tested

NCBI dbSNP Submissions

39

Location

Chr.1:1918091 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACAGGCTGTAGGCAGGAGGAGCCA[C/T]GGAGTCCAGGTCCAGCTCCCCAAAG

Phenotype

MIM: 610171

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CALML6 PubMed Links

Additional Information

For this assay, SNP(s) [rs28640257] are located under a probe 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

CALML6

Gene Name

calmodulin like 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005244729.3	457	Intron			XP_005244786.2
XM_011540841.2	457	Intron			XP_011539143.1

Gene

CFAP74

Gene Name

cilia and flagella associated protein 74

There are no transcripts associated with this gene.

Gene

TMEM52

Gene Name

transmembrane protein 52

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178545.3	457	Missense Mutation	ATG,GTG	M141V	NP_848640.1

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