Product Details

SNP ID

rs191045080

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:10607144 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGCTCCTTGTGTCTCCAAGTAC[A/G]TGGTCATTTTCTGAGTCTTTCTGCC

Phenotype

MIM: 608581

Polymorphism

A/G, 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	7183	Silent Mutation	CAC,CAT	H2318H	NP_849188.4

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