Product Details

SNP ID
rs146193506
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48752272 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAAGTACTGCCCCTTATGGCAGC[A/G]GGCAATCTCGACCTCCTGGTTCCCA
Phenotype
MIM: 176910
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PRKAR2A PubMed Links

Gene Details

Gene
PRKAR2A
Gene Name
protein kinase cAMP-dependent type II regulatory subunit alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321982.1 1224 Missense Mutation CGC,TGC R329C NP_001308911.1
NM_001321983.1 1224 Missense Mutation CGC,TGC R307C NP_001308912.1
NM_001321989.1 1224 Missense Mutation CGC,TGC R301C NP_001308918.1
NM_004157.3 1224 Missense Mutation CGC,TGC R329C NP_004148.1
XM_005265315.3 1224 Intron XP_005265372.1
XM_011533942.2 1224 Missense Mutation CGC,TGC R329C XP_011532244.1
XM_011533943.1 1224 Intron XP_011532245.1
XM_017006815.1 1224 Missense Mutation CGC,TGC R329C XP_016862304.1
XM_017006816.1 1224 Intron XP_016862305.1

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