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CTGAGCCCCACGTTCTCCACGCTCT[A/C]GGGGGCCACGTCGAACACCAGCGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600327 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SYT3 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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SYT3 - synaptotagmin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001160328.1 | 1724 | Missense Mutation | NP_001153800.1 | |||
NM_001160329.1 | 1724 | Missense Mutation | NP_001153801.1 | |||
NM_032298.2 | 1724 | Missense Mutation | NP_115674.1 | |||
XM_011527390.2 | 1724 | Nonsense Mutation | XP_011525692.1 | |||
XM_011527391.2 | 1724 | Nonsense Mutation | XP_011525693.1 |