Product Details

SNP ID

rs3118417

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:68428954 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAAGTGATTGCACAATGCTTAAA[C/T]ACAATTAAACAAAAAAGATGCAATA

Phenotype

MIM: 180069

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RPE65 PubMed Links

Gene Details

Gene

RPE65

Gene Name

RPE65, retinoid isomerohydrolase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000329.2	2690	UTR 3			NP_000320.1
XM_017002027.1	2690	UTR 3			XP_016857516.1

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