Product Details

SNP ID
rs150014108
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105457336 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTATTTCAGTCAGCATGAGTACT[A/G]TATTTATATTTGTGGGTGGCAGCTC
Phenotype
MIM: 616261
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PUS7 PubMed Links

Gene Details

Gene
PUS7
Gene Name
pseudouridylate synthase 7 (putative)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318163.1 2466 UTR 3 NP_001305092.1
NM_001318164.1 2466 UTR 3 NP_001305093.1
NM_019042.4 2466 UTR 3 NP_061915.2
XM_005250462.3 2466 UTR 3 XP_005250519.1
XM_011516336.2 2466 UTR 3 XP_011514638.1
XM_017012367.1 2466 UTR 3 XP_016867856.1
XM_017012368.1 2466 UTR 3 XP_016867857.1

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