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SNP ID

rs11385

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65719127 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCAAGCGGCTCCTGCGGATCGA[C/A]TCCAAGTGTCTGCACTTCACTCCCA

Phenotype

MIM: 601409 MIM: 610330

Polymorphism

C/A, Transversion 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	1331	Silent Mutation	GAA,GAC	E477D	NP_001193762.1
NM_006388.3	1331	Silent Mutation	GAA,GAC	E496D	NP_006379.2
NM_182709.2	1331	Silent Mutation	GAA,GAC	E444D	NP_874368.1
NM_182710.2	1331	Silent Mutation	GAA,GAC	E529D	NP_874369.1
XM_006718421.2	1331	Missense Mutation	GAA,GAC	E505D	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	1331	UTR 3			NP_115569.2

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