Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAAGTGTCTACCTCGGGGCAGATCC[A/G]GACCAAGGTAGGGCGGAGGAGGCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604071 | ||||||||||||||||||||
Literature Links: |
DGKH 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 |
DGKH - diacylglycerol kinase eta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204504.2 | 251 | Missense Mutation | CAG,CGG | Q,R 62 | NP_001191433.1 | |
NM_001204505.2 | 251 | Intron | NP_001191434.1 | |||
NM_001204506.2 | 251 | Intron | NP_001191435.1 | |||
NM_001297429.1 | 251 | Intron | NP_001284358.1 | |||
NM_152910.5 | 251 | Missense Mutation | CAG,CGG | Q,R 62 | NP_690874.2 | |
NM_178009.4 | 251 | Missense Mutation | CAG,CGG | Q,R 62 | NP_821077.1 |