Product Details

SNP ID
rs200378809
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:45574862 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCGTCCTCTTCCTGGCGCTGCTC[G/T]TGGTAACCAACGTCCGGTCCCTGCA
Phenotype
MIM: 103072
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ADCY1 PubMed Links

Gene Details

Gene
ADCY1
Gene Name
adenylate cyclase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281768.1 337 Intron NP_001268697.1
NM_021116.2 337 Missense Mutation GTG,TTG V107L NP_066939.1
XM_005249584.3 337 Missense Mutation GTG,TTG V107L XP_005249641.1
XM_005249585.2 337 Missense Mutation GTG,TTG V107L XP_005249642.1

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