Product Details

SNP ID

rs114836805

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30654837 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTTCACTGTGCGGTAGCCACTCC[A/G]AGTCAACCGTGCCGTGTGGTAAAAG

Phenotype

MIM: 615556 MIM: 603405

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATAT1 PubMed Links

Gene Details

Gene

ATAT1

Gene Name

alpha tubulin acetyltransferase 1

There are no transcripts associated with this gene.

Gene

C6orf136

Gene Name

chromosome 6 open reading frame 136

There are no transcripts associated with this gene.

Gene

DHX16

Gene Name

DEAH-box helicase 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164239.1	3286	Missense Mutation	CGG,TGG	R896W	NP_001157711.1
NM_003587.4	3286	Missense Mutation	CGG,TGG	R956W	NP_003578.2
XM_011514938.2	3286	Missense Mutation	CGG,TGG	R657W	XP_011513240.1
XM_011514939.2	3286	Missense Mutation	CGG,TGG	R657W	XP_011513241.1
XM_011514940.2	3286	Missense Mutation	CGG,TGG	R475W	XP_011513242.1
XM_011514941.2	3286	Missense Mutation	CGG,TGG	R439W	XP_011513243.1

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