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CCAGCTTCCAGGATCCTACCCTCAT[A/C]CAATACCAGCAAAGACTTTGAATCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607183 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SEC24A 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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SEC24A - SEC24 homolog A, COPII coat complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001252231.1 | 118 | Missense Mutation | ACA,CCA | T,P 61 | NP_001239160.1 | |
NM_021982.2 | 118 | Missense Mutation | ACA,CCA | T,P 61 | NP_068817.1 | |
XM_006714523.2 | 118 | Missense Mutation | ACA,CCA | T,P 61 | XP_006714586.1 | |
XM_017008961.1 | 118 | Missense Mutation | ACA,CCA | T,P 35 | XP_016864450.1 | |
XM_017008962.1 | 118 | Intron | XP_016864451.1 | |||
XM_017008963.1 | 118 | Missense Mutation | ACA,CCA | T,P 61 | XP_016864452.1 |