Product Details

SNP ID
rs140954170
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:120303620 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAAAGGCCGTTGGATCGCAAACC[C/T]CAGCCAGCCGTGCTCGAAAGCCTCC
Phenotype
MIM: 604482
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SIRT4 PubMed Links

Gene Details

Gene
SIRT4
Gene Name
sirtuin 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012240.2 300 Missense Mutation CCC,CTC P20L NP_036372.1
XM_005253865.4 300 Missense Mutation CCC,CTC P20L XP_005253922.1
XM_006719308.2 300 Missense Mutation CCC,CTC P20L XP_006719371.1
XM_006719309.3 300 Missense Mutation CCC,CTC P20L XP_006719372.1

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