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ATACAGCTGCTGCTGGTGAGCAGCC[A/G]CAGAGGGCAGTGGCGCAGACTTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601408 | ||||||||||||||||||||
Literature Links: |
KAT6A PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
KAT6A - lysine acetyltransferase 6A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001305878.1 | 6256 | Intron | NP_001292807.1 | |||
NM_006766.4 | 6256 | Missense Mutation | GCG,GTG | A,V 1867 | NP_006757.2 | |
XM_011544656.2 | 6256 | Missense Mutation | GCG,GTG | A,V 1911 | XP_011542958.1 | |
XM_011544657.2 | 6256 | Missense Mutation | GCG,GTG | A,V 1911 | XP_011542959.1 | |
XM_011544658.2 | 6256 | Missense Mutation | GCG,GTG | A,V 1911 | XP_011542960.1 | |
XM_011544659.2 | 6256 | Missense Mutation | GCG,GTG | A,V 1904 | XP_011542961.1 | |
XM_017013863.1 | 6256 | Missense Mutation | GCG,GTG | A,V 1867 | XP_016869352.1 | |
XM_017013864.1 | 6256 | Missense Mutation | GCG,GTG | A,V 1867 | XP_016869353.1 |