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TCTTCAGTTCCCTTTTAGACTATGG[C/T]GACATACCTGGAGTTCATCCAGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610512 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SEC23B 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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SEC23B - Sec23 homolog B, coat complex II component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001172745.1 | 466 | Missense Mutation | GCG,GTG | A,V 2 | NP_001166216.1 | |
NM_001172746.1 | 466 | Missense Mutation | GCG,GTG | A,V 2 | NP_001166217.1 | |
NM_006363.4 | 466 | Missense Mutation | GCG,GTG | A,V 2 | NP_006354.2 | |
NM_032985.4 | 466 | Missense Mutation | GCG,GTG | A,V 2 | NP_116780.1 | |
NM_032986.3 | 466 | Missense Mutation | GCG,GTG | A,V 2 | NP_116781.1 | |
XM_017027593.1 | 466 | Missense Mutation | GCG,GTG | A,V 2 | XP_016883082.1 |