Product Details

SNP ID

rs191581359

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:88050410 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAGCTGTGTCTCTAGATCTTTTA[C/T]TTTTTCCTTTAGTTGATCAGCATCT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009894.2	8367	Intron			NP_001009894.2

Gene

CEP290

Gene Name

centrosomal protein 290

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025114.3	8367	Missense Mutation	ATA,GTA	I2385V	NP_079390.3
XM_011538756.2	8367	Missense Mutation	ATA,GTA	I2675V	XP_011537058.1
XM_011538757.2	8367	Missense Mutation	ATA,GTA	I2675V	XP_011537059.1
XM_011538758.2	8367	Missense Mutation	ATA,GTA	I2674V	XP_011537060.1
XM_011538759.2	8367	Missense Mutation	ATA,GTA	I2672V	XP_011537061.1
XM_011538760.1	8367	Missense Mutation	ATA,GTA	I2634V	XP_011537062.1
XM_011538761.1	8367	Missense Mutation	ATA,GTA	I2620V	XP_011537063.1
XM_011538762.2	8367	Missense Mutation	ATA,GTA	I2419V	XP_011537064.1
XM_011538763.2	8367	Missense Mutation	ATA,GTA	I2388V	XP_011537065.1
XM_011538764.2	8367	Intron			XP_011537066.1
XM_011538765.2	8367	Intron			XP_011537067.1
XM_011538766.2	8367	Missense Mutation	ATA,GTA	I2162V	XP_011537068.1
XM_017019980.1	8367	Missense Mutation	ATA,GTA	I2631V	XP_016875469.1
XM_017019981.1	8367	Missense Mutation	ATA,GTA	I2617V	XP_016875470.1
XM_017019982.1	8367	Intron			XP_016875471.1
XM_017019983.1	8367	Missense Mutation	ATA,GTA	I2381V	XP_016875472.1

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