Product Details

SNP ID

rs148173636

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:88055595 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTACCTGTTGTTCAAGGTCTTCA[C/T]TGTATTTGTTAACTTTTTGTTCTCT

Phenotype

MIM: 610142

Polymorphism

C/T, Transition 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	8155	Missense Mutation	AAT,AGT	N2314S	NP_079390.3
XM_011538756.2	8155	Missense Mutation	AAT,AGT	N2604S	XP_011537058.1
XM_011538757.2	8155	Missense Mutation	AAT,AGT	N2604S	XP_011537059.1
XM_011538758.2	8155	Missense Mutation	AAT,AGT	N2603S	XP_011537060.1
XM_011538759.2	8155	Missense Mutation	AAT,AGT	N2601S	XP_011537061.1
XM_011538760.1	8155	Missense Mutation	AAT,AGT	N2563S	XP_011537062.1
XM_011538761.1	8155	Missense Mutation	AAT,AGT	N2549S	XP_011537063.1
XM_011538762.2	8155	Missense Mutation	AAT,AGT	N2348S	XP_011537064.1
XM_011538763.2	8155	Missense Mutation	AAT,AGT	N2317S	XP_011537065.1
XM_011538764.2	8155	Intron			XP_011537066.1
XM_011538765.2	8155	Intron			XP_011537067.1
XM_011538766.2	8155	Missense Mutation	AAT,AGT	N2091S	XP_011537068.1
XM_017019980.1	8155	Missense Mutation	AAT,AGT	N2560S	XP_016875469.1
XM_017019981.1	8155	Missense Mutation	AAT,AGT	N2546S	XP_016875470.1
XM_017019982.1	8155	Missense Mutation	AAT,AGT	N2604S	XP_016875471.1
XM_017019983.1	8155	Missense Mutation	AAT,AGT	N2310S	XP_016875472.1

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