Product Details

SNP ID

rs17418744

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:88054551 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCATAGGCAAATTTCTATGTTCTAT[A/T]CACCATTCATTCAACAAGTATTGAG

Phenotype

MIM: 610142

Polymorphism

A/T, 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		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

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