Product Details

SNP ID
rs147141932
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:49792007 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGATCTGCTCGAGTCACCCGCTCCT[C/T]AGCCAGGCTAAGCCAGAGTTCTCAA
Phenotype
MIM: 609880
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KAT7 PubMed Links

Gene Details

Gene
KAT7
Gene Name
lysine acetyltransferase 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199155.1 353 Missense Mutation TCA,TTA S46L NP_001186084.1
NM_001199156.1 353 Missense Mutation TCA,TTA S46L NP_001186085.1
NM_001199157.1 353 Missense Mutation TCA,TTA S46L NP_001186086.1
NM_001199158.1 353 Missense Mutation TCA,TTA S46L NP_001186087.1
NM_007067.4 353 Missense Mutation TCA,TTA S46L NP_008998.1
XM_011524235.2 353 Intron XP_011522537.1

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