Product Details

SNP ID
rs115580452
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:149859219 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTGACTTAATTTATACTCTGTGA[A/G]ATCAATGAAAAATCCAAGAATAAAA
Phenotype
MIM: 180071 MIM: 608886
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PDE6A PubMed Links

Gene Details

Gene
PDE6A
Gene Name
phosphodiesterase 6A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000440.2 3448 UTR 3 NP_000431.2
XM_011537650.2 3448 UTR 3 XP_011535952.1
XM_011537651.2 3448 UTR 3 XP_011535953.1
XM_011537652.1 3448 UTR 3 XP_011535954.1
XM_011537653.2 3448 UTR 3 XP_011535955.1
XM_011537654.2 3448 UTR 3 XP_011535956.1
XM_017009572.1 3448 UTR 3 XP_016865061.1
Gene
PPARGC1B
Gene Name
PPARG coactivator 1 beta
There are no transcripts associated with this gene.

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