Product Details
- SNP ID
-
rs138646715
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:41531056 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATCAGCCCCTGCTCGTGGATCTTC[C/T]GGATGGTCTCCAGTTTTGTCCCATA
- Phenotype
-
MIM: 300172
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CASK
PubMed Links
Gene Details
- Gene
- CASK
- Gene Name
- calcium/calmodulin dependent serine protein kinase
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001126054.2 |
2228 |
Missense Mutation |
CAG,CGG |
Q796R |
NP_001119526.1 |
| NM_001126055.2 |
2228 |
Missense Mutation |
CAG,CGG |
Q795R |
NP_001119527.1 |
| NM_003688.3 |
2228 |
Missense Mutation |
CAG,CGG |
Q819R |
NP_003679.2 |
| XM_005272686.4 |
2228 |
Missense Mutation |
CAG,CGG |
Q818R |
XP_005272743.1 |
| XM_006724566.3 |
2228 |
Missense Mutation |
CAG,CGG |
Q783R |
XP_006724629.1 |
| XM_011543993.2 |
2228 |
Missense Mutation |
CAG,CGG |
Q824R |
XP_011542295.1 |
| XM_011543994.2 |
2228 |
Missense Mutation |
CAG,CGG |
Q812R |
XP_011542296.1 |
| XM_011543995.2 |
2228 |
Missense Mutation |
CAG,CGG |
Q801R |
XP_011542297.1 |
| XM_011543996.2 |
2228 |
Missense Mutation |
CAG,CGG |
Q789R |
XP_011542298.1 |
| XM_011543997.2 |
2228 |
Missense Mutation |
CAG,CGG |
Q633R |
XP_011542299.1 |
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