Product Details

SNP ID
rs191443147
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:68537705 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTGAGTCTGTAGTCAGCTTGGGC[A/C]AGCAGCTGCAGGTGCAAAAGTGTTT
Phenotype
MIM: 611062 MIM: 188830
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
FAM20A PubMed Links

Gene Details

Gene
FAM20A
Gene Name
family with sequence similarity 20 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243746.1 1686 Silent Mutation CTG,CTT L328L NP_001230675.1
NM_017565.3 1686 Silent Mutation CTG,CTT L466L NP_060035.2
XM_006721959.2 1686 Silent Mutation CTG,CTT L328L XP_006722022.1
XM_011524918.2 1686 Intron XP_011523220.1
XM_017024781.1 1686 Intron XP_016880270.1
Gene
PRKAR1A
Gene Name
protein kinase cAMP-dependent type I regulatory subunit alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001276289.1 1686 Intron NP_001263218.1
NM_001276290.1 1686 Intron NP_001263219.1
NM_001278433.1 1686 Intron NP_001265362.1
NM_002734.4 1686 Intron NP_002725.1
NM_212471.2 1686 Intron NP_997636.1
NM_212472.2 1686 Intron NP_997637.1
XM_011524983.2 1686 Intron XP_011523285.1
XM_011524984.2 1686 Intron XP_011523286.1
XM_011524985.2 1686 Intron XP_011523287.1

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