Product Details

SNP ID
rs104894037
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:33096550 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATGATGTCATACATGGGATCTTCA[T/A]GTGCCTTAAGGGTCAGAGAAGGTTA
Phenotype
MIM: 607331
Polymorphism
T/A, Transversion Substitution
Allele Nomenclature
Literature Links
RP9 PubMed Links
Additional Information
For this assay, SNP(s) [rs17169625] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
RP9
Gene Name
retinitis pigmentosa 9 (autosomal dominant)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_203288.1 904 Intron NP_976033.1
XM_011515468.2 904 Missense Mutation CAT,CTT H103L XP_011513770.1

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