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CGCTCCTCCAGGGACTTGTCTTCAG[C/T]CTTGTCCACCTGTTGGACGGGACGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604568 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DOC2B 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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DOC2B - double C2 domain beta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003585.4 | 926 | Missense Mutation | ACT,GCT | T,A 259 | NP_003576.2 | |
XM_011535363.2 | 926 | Missense Mutation | ACT,GCT | T,A 234 | XP_011533665.1 | |
XM_017025227.1 | 926 | Intron | XP_016880716.1 |