Product Details
- SNP ID
-
rs200750895
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:121240755 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGTGGATGCATGCGTGCGGGGGAGC[C/T]GGGGGCGGGGGCCCAGCAACTTTCC
- Phenotype
-
MIM: 615002
MIM: 600846
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CAMKK2
PubMed Links
Gene Details
- Gene
- CAMKK2
- Gene Name
- calcium/calmodulin dependent protein kinase kinase 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001270485.1 |
1713 |
Missense Mutation |
AGC,GGC |
S571G |
NP_001257414.1 |
| NM_001270486.1 |
1713 |
Intron |
|
|
NP_001257415.1 |
| NM_006549.3 |
1713 |
Missense Mutation |
AGC,GGC |
S571G |
NP_006540.3 |
| NM_153499.2 |
1713 |
UTR 3 |
|
|
NP_705719.2 |
| NM_153500.1 |
1713 |
UTR 3 |
|
|
NP_705720.1 |
| NM_172214.2 |
1713 |
Intron |
|
|
NP_757363.1 |
| NM_172215.2 |
1713 |
Intron |
|
|
NP_757364.1 |
| NM_172216.1 |
1713 |
Missense Mutation |
AGC,GGC |
S528G |
NP_757365.1 |
| NM_172226.2 |
1713 |
UTR 3 |
|
|
NP_757380.1 |
| XM_005253822.3 |
1713 |
Missense Mutation |
AGC,GGC |
S528G |
XP_005253879.1 |
| XM_005253823.1 |
1713 |
Intron |
|
|
XP_005253880.1 |
| XM_005253824.3 |
1713 |
UTR 3 |
|
|
XP_005253881.1 |
| XM_011537763.1 |
1713 |
Intron |
|
|
XP_011536065.1 |
| XM_011537764.2 |
1713 |
Missense Mutation |
AGC,GGC |
S407G |
XP_011536066.1 |
| XM_017018694.1 |
1713 |
Missense Mutation |
AGC,GGC |
S589G |
XP_016874183.1 |
| XM_017018695.1 |
1713 |
Missense Mutation |
AGC,GGC |
S589G |
XP_016874184.1 |
| XM_017018696.1 |
1713 |
Missense Mutation |
AGC,GGC |
S589G |
XP_016874185.1 |
| XM_017018697.1 |
1713 |
Missense Mutation |
AGC,GGC |
S589G |
XP_016874186.1 |
| XM_017018698.1 |
1713 |
Missense Mutation |
AGC,GGC |
S571G |
XP_016874187.1 |
| XM_017018699.1 |
1713 |
Missense Mutation |
AGC,GGC |
S546G |
XP_016874188.1 |
| XM_017018700.1 |
1713 |
UTR 3 |
|
|
XP_016874189.1 |
| XM_017018701.1 |
1713 |
Intron |
|
|
XP_016874190.1 |
| XM_017018702.1 |
1713 |
Intron |
|
|
XP_016874191.1 |
| XM_017018703.1 |
1713 |
Intron |
|
|
XP_016874192.1 |
| XM_017018704.1 |
1713 |
Intron |
|
|
XP_016874193.1 |
| XM_017018705.1 |
1713 |
UTR 3 |
|
|
XP_016874194.1 |
| XM_017018706.1 |
1713 |
Intron |
|
|
XP_016874195.1 |
| XM_017018707.1 |
1713 |
UTR 3 |
|
|
XP_016874196.1 |
| XM_017018708.1 |
1713 |
Intron |
|
|
XP_016874197.1 |
| XM_017018709.1 |
1713 |
Missense Mutation |
AGC,GGC |
S296G |
XP_016874198.1 |
- Gene
- P2RX4
- Gene Name
- purinergic receptor P2X 4
There are no transcripts associated with this gene.
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