Product Details

SNP ID

rs148019384

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:88148326 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTTATAGAAAAGATGGCTAATA[C/T]TAACCTAAAAGAAATAACCTTAATA

Phenotype

MIM: 610142

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CEP290 PubMed Links

Gene Details

Gene

CEP290

Gene Name

centrosomal protein 290

There are no transcripts associated with this gene.

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	225	Missense Mutation	ACT,ATT	T4I	NP_861448.2
XM_011537980.2	225	Missense Mutation	ACT,ATT	T4I	XP_011536282.1
XM_011537981.2	225	Intron			XP_011536283.1

View Full Product Details