Product Details

SNP ID

rs113079348

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30619787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAAGGGTGGTGTACCCCCACAGC[A/G]GACTCGGAAGACATGTATTGTGAGT

Phenotype

MIM: 615556 MIM: 611982 MIM: 603771

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

MRPS18B

Gene Name

mitochondrial ribosomal protein S18B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014046.3	423	Missense Mutation	CAG,CGG	Q89R	NP_054765.1

Gene

PPP1R10

Gene Name

protein phosphatase 1 regulatory subunit 10

There are no transcripts associated with this gene.

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