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TCTCATTTGCACTGCTGGTGTTAAC[C/T]GGTTAGGAGGAGCCACTGCCCTCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607537 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAML2 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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MAML2 - mastermind like transcriptional coactivator 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032427.3 | 6176 | Missense Mutation | CAG,CGG | Q,R 1019 | NP_115803.1 | |
XM_011543023.2 | 6176 | Missense Mutation | CAG,CGG | Q,R 872 | XP_011541325.1 | |
XM_011543024.2 | 6176 | Missense Mutation | CAG,CGG | Q,R 791 | XP_011541326.1 | |
XM_011543025.1 | 6176 | Intron | XP_011541327.1 |