Product Details
- SNP ID
-
rs140080099
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:81092415 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTTGCAAAGGTGATGGAAGGCTCC[C/G]TGCTTTCAGTCCCTCCCAATTAAAA
- Phenotype
-
MIM: 601591
- Polymorphism
- C/G, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
PRKG2
PubMed Links
Gene Details
- Gene
- PRKG2
- Gene Name
- protein kinase, cGMP-dependent, type II
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001282480.1 |
2713 |
Missense Mutation |
CGG,GGG |
R302G |
NP_001269409.1 |
NM_001282481.1 |
2713 |
Missense Mutation |
CGG,GGG |
R302G |
NP_001269410.1 |
NM_001282482.1 |
2713 |
Missense Mutation |
CGG,GGG |
R273G |
NP_001269411.1 |
NM_001282483.1 |
2713 |
Missense Mutation |
CGG,GGG |
R242G |
NP_001269412.1 |
NM_001282485.1 |
2713 |
Missense Mutation |
CGG,GGG |
R693G |
NP_001269414.1 |
NM_006259.2 |
2713 |
Missense Mutation |
CGG,GGG |
R722G |
NP_006250.1 |
XM_005263126.3 |
2713 |
Missense Mutation |
CGG,GGG |
R722G |
XP_005263183.1 |
XM_017008413.1 |
2713 |
Missense Mutation |
CGG,GGG |
R722G |
XP_016863902.1 |
XM_017008414.1 |
2713 |
Missense Mutation |
CGG,GGG |
R722G |
XP_016863903.1 |
XM_017008415.1 |
2713 |
Missense Mutation |
CGG,GGG |
R722G |
XP_016863904.1 |
XM_017008416.1 |
2713 |
Missense Mutation |
CGG,GGG |
R722G |
XP_016863905.1 |
XM_017008417.1 |
2713 |
Missense Mutation |
CGG,GGG |
R693G |
XP_016863906.1 |
XM_017008418.1 |
2713 |
Intron |
|
|
XP_016863907.1 |
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