Product Details

SNP ID

rs200403049

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:10607182 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCTTTCTGCCAGCAGTTGCCCC[A/T]AGAGGATGCTCTGGAGGAGGAAGGG

Phenotype

MIM: 608581

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

RP1L1 PubMed Links

Gene Details

Gene

RP1L1

Gene Name

retinitis pigmentosa 1-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178857.5	7145	Missense Mutation	AGG,TGG	R2306W	NP_849188.4

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