Product Details

SNP ID
rs140032597
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:119837923 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTAAAAGTCTTCTCTTTCTCATAG[C/T]GCTCCTTCTGCCTACGGCGCTCTTC
Phenotype
MIM: 300298
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
UPF3B PubMed Links

Gene Details

Gene
UPF3B
Gene Name
UPF3 regulator of nonsense transcripts homolog B (yeast)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_023010.3 1236 Missense Mutation CAC,CGC H366R NP_075386.1
NM_080632.2 1236 Missense Mutation CAC,CGC H379R NP_542199.1
XM_017029737.1 1236 Missense Mutation CAC,CGC H379R XP_016885226.1
XM_017029738.1 1236 Missense Mutation CAC,CGC H379R XP_016885227.1
XM_017029739.1 1236 Missense Mutation CAC,CGC H366R XP_016885228.1
XM_017029740.1 1236 Missense Mutation CAC,CGC H379R XP_016885229.1

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