Product Details

SNP ID

rs62637005

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:68431145 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAATCAGGCTCTTGCCAAACCCAA[T/G]TTTCTTTAGTTTTGACATTCAGCTT

Phenotype

MIM: 180069

Polymorphism

T/G, Transversion 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	1636	Missense Mutation	AAT,ACT	N457T	NP_000320.1
XM_017002027.1	1636	Missense Mutation	AAT,ACT	N365T	XP_016857516.1

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