Product Details

SNP ID
rs114851854
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:203496101 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAGGAGAGGAAGAGGAGAGAGGA[A/G]CAGATGCCCAGGGAAGGCGATTCCT
Phenotype
MIM: 605127 MIM: 601914
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
OPTC PubMed Links

Gene Details

Gene
OPTC
Gene Name
opticin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014359.3 212 Silent Mutation GAA,GAG E32E NP_055174.1
XM_011509406.2 212 Silent Mutation GAA,GAG E32E XP_011507708.1
Gene
PRELP
Gene Name
proline and arginine rich end leucine rich repeat protein
There are no transcripts associated with this gene.

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