Product Details

SNP ID
rs139160010
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:13584124 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACAAACCCTGATGCGACCTCTCC[A/G]GATTGTCCCAAGTCGATTGATTTCC
Phenotype
MIM: 604483
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SIRT5 PubMed Links

Gene Details

Gene
SIRT5
Gene Name
sirtuin 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193267.2 234 Missense Mutation CAG,CGG Q5R NP_001180196.1
NM_001242827.1 234 UTR 5 NP_001229756.1
NM_012241.4 234 Missense Mutation CAG,CGG Q5R NP_036373.1
NM_031244.3 234 Missense Mutation CAG,CGG Q5R NP_112534.1
XM_005248968.4 234 Missense Mutation CAG,CGG Q5R XP_005249025.1
XM_011514444.2 234 UTR 5 XP_011512746.1
XM_017010620.1 234 Missense Mutation CAG,CGG Q5R XP_016866109.1
XM_017010621.1 234 Missense Mutation CAG,CGG Q5R XP_016866110.1
XM_017010622.1 234 UTR 5 XP_016866111.1
XM_017010623.1 234 UTR 5 XP_016866112.1
XM_017010624.1 234 Missense Mutation CAG,CGG Q5R XP_016866113.1
XM_017010625.1 234 Missense Mutation CAG,CGG Q5R XP_016866114.1

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