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TTAATTAAGCAGCTGACAGATCTCC[C/T]TGTGAACACAACAAAGGAAATCCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607186 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SEC24D 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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SEC24D - SEC24 homolog D, COPII coat complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318066.1 | 2529 | Missense Mutation | AAG,AGG | K,R 1026 | NP_001304995.1 | |
NM_014822.3 | 2529 | Missense Mutation | AAG,AGG | K,R 1025 | NP_055637.2 | |
XM_005263379.2 | 2529 | Missense Mutation | AAG,AGG | K,R 1026 | XP_005263436.1 | |
XM_017008875.1 | 2529 | Missense Mutation | AAG,AGG | K,R 581 | XP_016864364.1 |