Product Details

SNP ID

rs117280420

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:18142268 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAATTCGGAAAAAAGAAAACATT[C/G]GTCTTTTGGGAGAACAGATTATTTT

Phenotype

MIM: 614771

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KAT14 PubMed Links

Gene Details

Gene

KAT14

Gene Name

lysine acetyltransferase 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020536.4	45	UTR 5			NP_065397.3

Gene

PET117

Gene Name

PET117 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164811.1	45	Missense Mutation	CGT,GGT	R53G	NP_001158283.1

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