Product Details

SNP ID
rs200720962
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:41932485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTCAAGGTGTTCATATTCATGGAA[C/T]TGACATTATAGGCGGGAGTAGGCAT
Phenotype
MIM: 601408
Polymorphism
C/T, 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 6391 Intron NP_001292807.1
NM_006766.4 6391 Missense Mutation AAT,AGT N1912S NP_006757.2
XM_011544656.2 6391 Missense Mutation AAT,AGT N1956S XP_011542958.1
XM_011544657.2 6391 Missense Mutation AAT,AGT N1956S XP_011542959.1
XM_011544658.2 6391 Missense Mutation AAT,AGT N1956S XP_011542960.1
XM_011544659.2 6391 Missense Mutation AAT,AGT N1949S XP_011542961.1
XM_017013863.1 6391 Missense Mutation AAT,AGT N1912S XP_016869352.1
XM_017013864.1 6391 Missense Mutation AAT,AGT N1912S XP_016869353.1

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