Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 300172 MIM: 300748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CASK PubMed Links | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Global
|
Caucasian
|
CEPH (CEU)
|
|||||||||
EAS
|
African American
|
YRI (Yoruba)
|
|||||||||
SAS
|
Japanese
|
CHB (Han Chinese) - Not Available | |||||||||
AFR
|
Chinese
|
JPT (Japanese)
|
|||||||||
EUR
|
|||||||||||
AMR
|
CASK - calcium/calmodulin dependent serine protein kinase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001126054.2 | 1686 | Intron | NP_001119526.1 | |||
NM_001126055.2 | 1686 | Intron | NP_001119527.1 | |||
NM_003688.3 | 1686 | Intron | NP_003679.2 | |||
XM_005272686.4 | 1686 | Intron | XP_005272743.1 | |||
XM_006724566.3 | 1686 | Intron | XP_006724629.1 | |||
XM_011543993.2 | 1686 | Intron | XP_011542295.1 | |||
XM_011543994.2 | 1686 | Intron | XP_011542296.1 | |||
XM_011543995.2 | 1686 | Intron | XP_011542297.1 | |||
XM_011543996.2 | 1686 | Intron | XP_011542298.1 | |||
XM_011543997.2 | 1686 | Intron | XP_011542299.1 |
GPR82 - G protein-coupled receptor 82 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080817.4 | 1686 | UTR 3 | NP_543007.1 | |||
XM_017029414.1 | 1686 | UTR 3 | XP_016884903.1 |
Set Membership: |
HapMap Validated |