Product Details

SNP ID
rs148999050
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:73887372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATATAGGGAAACCATCTTTGTATG[C/G]CAGCCTGACTTGTCAAGGAATTGGC
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PAAF1 PubMed Links

Gene Details

Gene
PAAF1
Gene Name
proteasomal ATPase associated factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267803.1 189 Missense Mutation GCC,GGC A19G NP_001254732.1
NM_001267804.1 189 Missense Mutation GCC,GGC A19G NP_001254733.1
NM_001267805.1 189 Missense Mutation GCC,GGC A19G NP_001254734.1
NM_001267806.1 189 UTR 5 NP_001254735.1
NM_025155.2 189 Missense Mutation GCC,GGC A36G NP_079431.1
XM_005274308.2 189 Intron XP_005274365.2
XM_005274309.1 189 UTR 5 XP_005274366.1
XM_017018357.1 189 UTR 5 XP_016873846.1
XM_017018358.1 189 UTR 5 XP_016873847.1
XM_017018359.1 189 Intron XP_016873848.1

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