Product Details

SNP ID
rs11554175
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:131930062 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAAGAGCGGTGGCGACGAGGAGC[G/T]GCGCGAGAAGCCGCCCAAGCGGAAG
Phenotype
MIM: 608109 MIM: 603168
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PUS1 PubMed Links

Gene Details

Gene
PUS1
Gene Name
pseudouridylate synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002019.2 685 Missense Mutation CGG,CTG R49L NP_001002019.1
NM_001002020.2 685 Missense Mutation CGG,CTG R49L NP_001002020.1
NM_025215.5 685 Missense Mutation CGG,CTG R77L NP_079491.2
XM_011538768.2 685 Intron XP_011537070.1
XM_011538769.2 685 Missense Mutation CGG,CTG R77L XP_011537071.1
Gene
ULK1
Gene Name
unc-51 like autophagy activating kinase 1
There are no transcripts associated with this gene.

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