Product Details

SNP ID
rs202213014
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:10607051 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAAGGGGCCTCTTCTTGCTCAGA[A/G]GTAGAACTTTCTGGGTACATCCTGG
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 7276 Silent Mutation ACC,ACT T2349T NP_849188.4

View Full Product Details