Product Details

SNP ID

rs199812020

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:74843218 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGCAATTGAAGGACTTGAGGAG[C/T]CGAATGGCTCCTCCCTGAAGAACAT

Phenotype

MIM: 605880

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KAT6B PubMed Links

Gene Details

Gene

KAT6B

Gene Name

lysine acetyltransferase 6B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256468.1	1062	Missense Mutation	CCG,TCG	P121S	NP_001243397.1
NM_001256469.1	1062	Missense Mutation	CCG,TCG	P121S	NP_001243398.1
NM_012330.3	1062	Missense Mutation	CCG,TCG	P121S	NP_036462.2
XM_005269664.2	1062	Missense Mutation	CCG,TCG	P121S	XP_005269721.1
XM_017016000.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871489.1
XM_017016001.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871490.1
XM_017016002.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871491.1
XM_017016003.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871492.1
XM_017016004.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871493.1
XM_017016005.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871494.1
XM_017016006.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871495.1
XM_017016007.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871496.1
XM_017016008.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871497.1
XM_017016009.1	1062	Missense Mutation	CCG,TCG	P121S	XP_016871498.1

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