Product Details

SNP ID

rs184182963

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:3815406 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGGAGCCCGAGCGCCGCGTCAG[C/T]GCTTGGCGTACGTCCTGCTGGAGCT

Phenotype

MIM: 616690

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CEP104 PubMed Links

Additional Information

For this assay, SNP(s) [rs12728401] 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

CEP104

Gene Name

centrosomal protein 104

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014704.3	3235	Missense Mutation	CAC,CGC	H925R	NP_055519.1
XM_005244815.4	3235	Missense Mutation	CAC,CGC	H961R	XP_005244872.1
XM_011542473.2	3235	Missense Mutation	CAC,CGC	H967R	XP_011540775.1
XM_011542474.2	3235	Missense Mutation	CAC,CGC	H931R	XP_011540776.1
XM_011542475.2	3235	Missense Mutation	CAC,CGC	H909R	XP_011540777.1
XM_011542476.2	3235	Missense Mutation	CAC,CGC	H901R	XP_011540778.1
XM_011542477.2	3235	Missense Mutation	CAC,CGC	H843R	XP_011540779.1
XM_011542478.1	3235	Intron			XP_011540780.1
XM_017002917.1	3235	Missense Mutation	CAC,CGC	H903R	XP_016858406.1
XM_017002918.1	3235	Missense Mutation	CAC,CGC	H867R	XP_016858407.1
XM_017002919.1	3235	Missense Mutation	CAC,CGC	H859R	XP_016858408.1

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