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SNP ID: rs138775702
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:30626926 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GATGTGGACGCGCTGTTCCCGGAGC[A/G]GATCACGGTGCTGGACCAGCACCTG
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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031722.3	85	UTR 5			NP_001026892.1
NM_001190724.2	85	UTR 5			NP_001177653.1
NM_001254952.2	85	Missense Mutation	CAG,CGG	Q14R	NP_001241881.1
NM_001318762.1	85	Missense Mutation	CAG,CGG	Q14R	NP_001305691.1
NM_001318763.1	85	Missense Mutation	CAG,CGG	Q14R	NP_001305692.1
NM_024909.3	85	Missense Mutation	CAG,CGG	Q14R	NP_079185.2
XM_005249415.2	85	UTR 5			XP_005249472.1
XM_011514918.2	85	Intron			XP_011513220.1
XM_017011316.1	85	UTR 5			XP_016866805.1

Gene: MRPS18B
Gene Name: mitochondrial ribosomal protein S18B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014046.3	85	Intron			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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