Product Details

SNP ID
rs200981799
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:130780396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACAGAAAGAAAATGCTTTTATGG[A/C]AAATCAGATTTGTCGGTGCCTTCAG
Phenotype
MIM: 103070
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ADCY8 PubMed Links

Gene Details

Gene
ADCY8
Gene Name
adenylate cyclase 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001115.2 4135 Missense Mutation TTG,TTT L1250F NP_001106.1
XM_005250769.3 4135 Missense Mutation TTG,TTT L1220F XP_005250826.1
XM_006716501.3 4135 Missense Mutation TTG,TTT L1184F XP_006716564.1
XM_017013006.1 4135 Missense Mutation TTG,TTT L1154F XP_016868495.1
XM_017013007.1 4135 Intron XP_016868496.1

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