Product Details

SNP ID
rs2278300
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:60948938 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CAGATTCATAAGAACTGAATCCTCT[G/T]CATTTTCTTGTCGGAACAACTCTTC
Phenotype
MIM: 612787
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PUS10 PubMed Links

Gene Details

Gene
PUS10
Gene Name
pseudouridylate synthase 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322123.1 Intron NP_001309052.1
NM_001322124.1 Intron NP_001309053.1
NM_001322127.1 Intron NP_001309056.1
NM_144709.3 Intron NP_653310.2
XM_011532568.2 Intron XP_011530870.1
XM_011532570.1 Intron XP_011530872.1
XM_011532571.1 Intron XP_011530873.1
XM_011532572.1 Intron XP_011530874.1
XM_011532573.2 Intron XP_011530875.1
XM_011532574.2 Intron XP_011530876.1
XM_011532576.2 Intron XP_011530878.1
XM_011532578.1 Intron XP_011530880.1
XM_017003428.1 Intron XP_016858917.1
XM_017003429.1 Intron XP_016858918.1

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