Product Details

SNP ID
rs57451017
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49295226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAGCCACCACCCGTCGGGCCTCC[A/G]GGCCGGCTTCAGCTCCACCTCATAC
Phenotype
MIM: 170710
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
LOC101927267 PubMed Links

Gene Details

Gene
LOC101927267
Gene Name
uncharacterized LOC101927267
There are no transcripts associated with this gene.

Gene
PRPH
Gene Name
peripherin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006262.3 214 Missense Mutation CAG,CGG Q9R NP_006253.2
XM_005269025.1 214 Missense Mutation CAG,CGG Q9R XP_005269082.1

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