Product Details

SNP ID
rs11540803
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:84982325 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCGCCGGCCTCTTGGAGTCGGAG[C/G]TTCGCGACGGCAGCGGCAAGAAGGT
Phenotype
MIM: 602972 MIM: 606207
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PDE8A PubMed Links

Gene Details

Gene
PDE8A
Gene Name
phosphodiesterase 8A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243137.1 62 Intron NP_001230066.1
NM_002605.2 62 Missense Mutation CTT,GTT L55V NP_002596.1
NM_173454.1 62 Missense Mutation CTT,GTT L55V NP_775656.1
XM_011521668.2 62 Intron XP_011519970.1
XM_017022308.1 62 Missense Mutation CTT,GTT L55V XP_016877797.1
XM_017022309.1 62 UTR 5 XP_016877798.1
XM_017022310.1 62 Missense Mutation CTT,GTT L55V XP_016877799.1
XM_017022311.1 62 UTR 5 XP_016877800.1
Gene
SLC28A1
Gene Name
solute carrier family 28 member 1
There are no transcripts associated with this gene.

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