Product Details

SNP ID

rs117007660

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:10607094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCTGGTGGCCTTCCTCTCTGCA[C/T]GAGGGGTCCCCGTGGACTTGGCATC

Phenotype

MIM: 608581

Polymorphism

C/T, Transition 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	7233	Missense Mutation	CAT,CGT	H2335R	NP_849188.4

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