Product Details

SNP ID
rs141037128
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:60948124 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCATGAAGTGAATGACGCGAGCT[C/T]GCACAGCCAGGGGCCTTCGGTGAAG
Phenotype
MIM: 612787
Polymorphism
C/T, Transition 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 1509 Missense Mutation NP_001309052.1
NM_001322124.1 1509 Missense Mutation NP_001309053.1
NM_001322127.1 1509 Missense Mutation NP_001309056.1
NM_144709.3 1509 Missense Mutation NP_653310.2
XM_011532568.2 1509 Missense Mutation XP_011530870.1
XM_011532570.1 1509 Missense Mutation XP_011530872.1
XM_011532571.1 1509 Missense Mutation XP_011530873.1
XM_011532572.1 1509 Missense Mutation XP_011530874.1
XM_011532573.2 1509 Missense Mutation XP_011530875.1
XM_011532574.2 1509 Missense Mutation XP_011530876.1
XM_011532576.2 1509 Missense Mutation XP_011530878.1
XM_011532578.1 1509 Missense Mutation XP_011530880.1
XM_017003428.1 1509 Missense Mutation XP_016858917.1
XM_017003429.1 1509 Missense Mutation XP_016858918.1

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