Product Details

SNP ID
rs12307250
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:88148814 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CGTGGGTATATTGCGTTATGCTGAT[A/G]TTTGGGGTACCAATCTGTCACCCAG
Phenotype
MIM: 610142
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CEP290 PubMed Links
Additional Information
For this assay, SNP(s) [rs74741016] 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
CEP290
Gene Name
centrosomal protein 290
There are no transcripts associated with this gene.

Gene
TMTC3
Gene Name
transmembrane and tetratricopeptide repeat containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181783.3 Intron NP_861448.2
XM_011537980.2 Intron XP_011536282.1
XM_011537981.2 Intron XP_011536283.1

View Full Product Details