Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAGTACTAACATCATACTACTCTTT[G/T]GTAAGCCATCTGAGAAAAATAAGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 300172 MIM: 300748 | ||||||||||||||||||||
Literature Links: |
CASK PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CASK - calcium/calmodulin dependent serine protein kinase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001126054.2 | 1068 | Intron | NP_001119526.1 | |||
NM_001126055.2 | 1068 | Intron | NP_001119527.1 | |||
NM_003688.3 | 1068 | Intron | NP_003679.2 | |||
XM_005272686.4 | 1068 | Intron | XP_005272743.1 | |||
XM_006724566.3 | 1068 | Intron | XP_006724629.1 | |||
XM_011543993.2 | 1068 | Intron | XP_011542295.1 | |||
XM_011543994.2 | 1068 | Intron | XP_011542296.1 | |||
XM_011543995.2 | 1068 | Intron | XP_011542297.1 | |||
XM_011543996.2 | 1068 | Intron | XP_011542298.1 | |||
XM_011543997.2 | 1068 | Intron | XP_011542299.1 |
GPR82 - G protein-coupled receptor 82 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080817.4 | 1068 | Missense Mutation | TTG,TTT | L,F 224 | NP_543007.1 | |
XM_017029414.1 | 1068 | Missense Mutation | TTG,TTT | L,F 224 | XP_016884903.1 |