Product Details

SNP ID
rs144253175
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:30627881 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAAGGAGCCATTATTGGTTTCAT[C/G]AAAGTTGGATACAAGAAGCTCTTTG
Phenotype
MIM: 615556 MIM: 611982 MIM: 603771
Polymorphism
C/G, Transversion 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_001031722.3 335 Missense Mutation ATC,ATG I85M NP_001026892.1
NM_001190724.2 335 Missense Mutation ATC,ATG I85M NP_001177653.1
NM_001254952.2 335 Missense Mutation ATC,ATG I97M NP_001241881.1
NM_001318762.1 335 Missense Mutation ATC,ATG I97M NP_001305691.1
NM_001318763.1 335 Missense Mutation ATC,ATG I97M NP_001305692.1
NM_024909.3 335 Missense Mutation ATC,ATG I97M NP_079185.2
XM_005249415.2 335 Missense Mutation ATC,ATG I85M XP_005249472.1
XM_011514918.2 335 Intron XP_011513220.1
XM_017011316.1 335 Missense Mutation ATC,ATG I85M XP_016866805.1
Gene
MRPS18B
Gene Name
mitochondrial ribosomal protein S18B
There are no transcripts associated with this gene.

Gene
PPP1R10
Gene Name
protein phosphatase 1 regulatory subunit 10
There are no transcripts associated with this gene.

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