Product Details

SNP ID

rs11836903

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:88147841 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TATTTCCAGAAGCTTTTAGAATCCT[A/T]TTTGTTTTCAGTGTTGTAAAGTTTT

Phenotype

MIM: 610142

Polymorphism

A/T, Transversion 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		Intron			NP_861448.2
XM_011537980.2		Intron			XP_011536282.1
XM_011537981.2		Intron			XP_011536283.1

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