Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300172 MIM: 300241 | ||||||||||||||||||||||||||
Literature Links: |
CASK PubMed Links | ||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese)
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EUR - Not Available | |||||
AMR - Not Available |
CASK - calcium/calmodulin dependent serine protein kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001126054.2 | 278 | Intron | NP_001119526.1 | |||
NM_001126055.2 | 278 | Intron | NP_001119527.1 | |||
NM_003688.3 | 278 | Intron | NP_003679.2 | |||
XM_005272686.4 | 278 | Intron | XP_005272743.1 | |||
XM_006724566.3 | 278 | Intron | XP_006724629.1 | |||
XM_011543993.2 | 278 | Intron | XP_011542295.1 | |||
XM_011543994.2 | 278 | Intron | XP_011542296.1 | |||
XM_011543995.2 | 278 | Intron | XP_011542297.1 | |||
XM_011543996.2 | 278 | Intron | XP_011542298.1 | |||
XM_011543997.2 | 278 | Intron | XP_011542299.1 |
GPR34 - G protein-coupled receptor 34 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001097579.1 | 278 | Missense Mutation | AGC,CGC | S,R 24 | NP_001091048.1 | |
NM_005300.3 | 278 | Missense Mutation | AGC,CGC | S,R 24 | NP_005291.1 | |
XM_005272597.3 | 278 | Missense Mutation | AGC,CGC | S,R 24 | XP_005272654.1 |
Set Membership: |
HapMap |