Product Details

SNP ID
rs62642544
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:93612928 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTGTGCTTGGAGCTGCTGTGGA[C/T]CGTGCAGGAGGAGGGGGGCACCCCA
Phenotype
MIM: 600827
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PDE6C PubMed Links

Gene Details

Gene
PDE6C
Gene Name
phosphodiesterase 6C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006204.3 341 Missense Mutation ACC,ATC T68I NP_006195.3
XM_017016322.1 341 Intron XP_016871811.1

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