Product Details

SNP ID

rs201116540

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:68431066 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACACAACAATTGCTTTCATTACC[A/G]TCATCTTCTTCCAAGGCATCTGGGT

Phenotype

MIM: 180069

Polymorphism

A/G, 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	1715	Silent Mutation	GAC,GAT	D483D	NP_000320.1
XM_017002027.1	1715	Silent Mutation	GAC,GAT	D391D	XP_016857516.1

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