Product Details

SNP ID
rs201457092
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:231738034 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATACCTTCTAGGCATTGCCCTTTGA[A/G]GTAAACTTTTTGTTCCAGGCGGAAT
Phenotype
MIM: 602676
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PDE6D PubMed Links

Gene Details

Gene
PDE6D
Gene Name
phosphodiesterase 6D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291018.1 457 Missense Mutation CTC,TTC L82F NP_001277947.1
NM_002601.3 457 Missense Mutation CTC,TTC L82F NP_002592.1
XM_011511342.1 457 Missense Mutation CTC,TTC L63F XP_011509644.1

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