Product Details

SNP ID
rs112353308
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:88142599 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTGGTCCCATTCTGAAAAAGTG[A/G]GAACACCCTGCCTTCTCTTCAGGCG
Phenotype
MIM: 610142
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CEP290 PubMed Links

Gene Details

Gene
CEP290
Gene Name
centrosomal protein 290
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025114.3 Intron NP_079390.3
XM_011538756.2 Intron XP_011537058.1
XM_011538757.2 Intron XP_011537059.1
XM_011538758.2 Intron XP_011537060.1
XM_011538759.2 Intron XP_011537061.1
XM_011538760.1 Intron XP_011537062.1
XM_011538761.1 Intron XP_011537063.1
XM_011538762.2 Intron XP_011537064.1
XM_011538763.2 Intron XP_011537065.1
XM_011538764.2 Intron XP_011537066.1
XM_011538765.2 Intron XP_011537067.1
XM_011538766.2 Intron XP_011537068.1
XM_017019980.1 Intron XP_016875469.1
XM_017019981.1 Intron XP_016875470.1
XM_017019982.1 Intron XP_016875471.1
XM_017019983.1 Intron XP_016875472.1
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

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