Product Details

SNP ID
rs519592
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:236811 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGACCACAGGCGCCCACACTCTTT[A/G]ACGCCTCAATGGCACAGCCAAGTGC
Phenotype
MIM: 603481 MIM: 604481
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PSMD13 PubMed Links

Gene Details

Gene
PSMD13
Gene Name
proteasome 26S subunit, non-ATPase 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002817.3 137 UTR 5 NP_002808.3
NM_175932.2 137 UTR 5 NP_787128.2
XM_011520235.2 137 UTR 5 XP_011518537.1
Gene
SIRT3
Gene Name
sirtuin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017524.2 137 Intron NP_001017524.1
NM_012239.5 137 Intron NP_036371.1
XM_005252835.1 137 Intron XP_005252892.1
XM_011519956.1 137 Intron XP_011518258.1
XM_011519957.1 137 Intron XP_011518259.1
XM_017017428.1 137 Intron XP_016872917.1
XM_017017429.1 137 UTR 5 XP_016872918.1
XM_017017430.1 137 UTR 5 XP_016872919.1
XM_017017431.1 137 Intron XP_016872920.1

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