Product Details

SNP ID
rs818620
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105532238 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CCTACGGCCTCCGAGGCTGGGTAGT[C/G]AGTGTGTCGCTGGCCTTAGCCAGAC
Phenotype
MIM: 616261 MIM: 610089
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PUS7 PubMed Links

Gene Details

Gene
PUS7
Gene Name
pseudouridylate synthase 7 (putative)
There are no transcripts associated with this gene.

Gene
RINT1
Gene Name
RAD50 interactor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021930.4 154 UTR 5 NP_068749.3
XM_005250524.3 154 Intron XP_005250581.1
XM_011516458.2 154 Intron XP_011514760.1
XM_017012496.1 154 UTR 5 XP_016867985.1
XM_017012497.1 154 UTR 5 XP_016867986.1
XM_017012498.1 154 UTR 5 XP_016867987.1

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