Product Details

SNP ID

rs71455781

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65712274 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGTGGAGGGAGGGAAGATGGCG[A/G]AGGTGGTGAGTCCGGTGCCCGGGGC

Phenotype

MIM: 601409 MIM: 610330

Polymorphism

A/G, 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	273	Missense Mutation	AAG,GAG	K3E	NP_001193762.1
NM_006388.3	273	Missense Mutation	AAG,GAG	K3E	NP_006379.2
NM_182709.2	273	Missense Mutation	AAG,GAG	K3E	NP_874368.1
NM_182710.2	273	Missense Mutation	AAG,GAG	K3E	NP_874369.1
XM_006718421.2	273	Missense Mutation	AAG,GAG	K3E	XP_006718484.1

Gene

RNASEH2C

Gene Name

ribonuclease H2 subunit C

There are no transcripts associated with this gene.

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