Product Details

SNP ID
rs117270099
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:41932226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCTCATCTTCTCATGTAAGGTCC[A/G]TTGAGTGACTGCTTGGGCACGCCAG
Phenotype
MIM: 601408
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KAT6A PubMed Links

Gene Details

Gene
KAT6A
Gene Name
lysine acetyltransferase 6A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001305878.1 6650 Intron NP_001292807.1
NM_006766.4 6650 Silent Mutation AAC,AAT N1998N NP_006757.2
XM_011544656.2 6650 Silent Mutation AAC,AAT N2042N XP_011542958.1
XM_011544657.2 6650 Silent Mutation AAC,AAT N2042N XP_011542959.1
XM_011544658.2 6650 Silent Mutation AAC,AAT N2042N XP_011542960.1
XM_011544659.2 6650 Silent Mutation AAC,AAT N2035N XP_011542961.1
XM_017013863.1 6650 Silent Mutation AAC,AAT N1998N XP_016869352.1
XM_017013864.1 6650 Silent Mutation AAC,AAT N1998N XP_016869353.1

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