Product Details

SNP ID
rs78464826
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:65720062 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACTCACCGCTGCCGCAAGGCTGG[G/A]CCAAGTTAAGGCCCCACGCACTTTG
Phenotype
MIM: 601409 MIM: 610330
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
KAT5 PubMed Links

Gene Details

Gene
KAT5
Gene Name
lysine acetyltransferase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206833.1 631 Intron NP_001193762.1
NM_006388.3 631 Intron NP_006379.2
NM_182709.2 631 Intron NP_874368.1
NM_182710.2 631 Intron NP_874369.1
XM_006718421.2 631 Intron XP_006718484.1
Gene
RNASEH2C
Gene Name
ribonuclease H2 subunit C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032193.3 631 Missense Mutation CCC,TCC P151S NP_115569.2

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