Product Details

SNP ID

rs201801456

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:88053698 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTTTGGTCCTTGTTAGCTTCTAT[A/C]TGATGGATTAATTCTGCTTTCTCTT

Phenotype

MIM: 610142

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

C12orf29 PubMed Links

Gene Details

Gene

C12orf29

Gene Name

chromosome 12 open reading frame 29

There are no transcripts associated with this gene.

Gene

CEP290

Gene Name

centrosomal protein 290

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025114.3	8297	Missense Mutation	CAG,CAT	Q2361H	NP_079390.3
XM_011538756.2	8297	Missense Mutation	CAG,CAT	Q2651H	XP_011537058.1
XM_011538757.2	8297	Missense Mutation	CAG,CAT	Q2651H	XP_011537059.1
XM_011538758.2	8297	Missense Mutation	CAG,CAT	Q2650H	XP_011537060.1
XM_011538759.2	8297	Missense Mutation	CAG,CAT	Q2648H	XP_011537061.1
XM_011538760.1	8297	Missense Mutation	CAG,CAT	Q2610H	XP_011537062.1
XM_011538761.1	8297	Missense Mutation	CAG,CAT	Q2596H	XP_011537063.1
XM_011538762.2	8297	Missense Mutation	CAG,CAT	Q2395H	XP_011537064.1
XM_011538763.2	8297	Missense Mutation	CAG,CAT	Q2364H	XP_011537065.1
XM_011538764.2	8297	Intron			XP_011537066.1
XM_011538765.2	8297	Intron			XP_011537067.1
XM_011538766.2	8297	Missense Mutation	CAG,CAT	Q2138H	XP_011537068.1
XM_017019980.1	8297	Missense Mutation	CAG,CAT	Q2607H	XP_016875469.1
XM_017019981.1	8297	Missense Mutation	CAG,CAT	Q2593H	XP_016875470.1
XM_017019982.1	8297	UTR 3			XP_016875471.1
XM_017019983.1	8297	Missense Mutation	CAG,CAT	Q2357H	XP_016875472.1

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