Product Details

SNP ID

rs146954242

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:88148325 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGCTTATAGAAAAGATGGCTAAT[A/G]TTAACCTAAAAGAAATAACCTTAAT

Phenotype

MIM: 610142

Polymorphism

A/G, 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	224	Missense Mutation	ATT,GTT	I4V	NP_861448.2
XM_011537980.2	224	Missense Mutation	ATT,GTT	I4V	XP_011536282.1
XM_011537981.2	224	Intron			XP_011536283.1

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