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AATGATGGCAAGAATGATGCCTGCC[G/T]GTGTGCTTCTCAGAGGACGTATAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300172 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CASK PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 4960 | UTR 3 | NP_001119526.1 | |||
NM_001126055.2 | 4960 | UTR 3 | NP_001119527.1 | |||
NM_003688.3 | 4960 | UTR 3 | NP_003679.2 | |||
XM_005272686.4 | 4960 | UTR 3 | XP_005272743.1 | |||
XM_006724566.3 | 4960 | UTR 3 | XP_006724629.1 | |||
XM_011543993.2 | 4960 | UTR 3 | XP_011542295.1 | |||
XM_011543994.2 | 4960 | UTR 3 | XP_011542296.1 | |||
XM_011543995.2 | 4960 | UTR 3 | XP_011542297.1 | |||
XM_011543996.2 | 4960 | UTR 3 | XP_011542298.1 | |||
XM_011543997.2 | 4960 | UTR 3 | XP_011542299.1 |