Product Details

SNP ID
rs137853973
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:58002623 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTCCCCCACGAGCGAGGCAACTG[A/G]GCCACCCACGTCTATGTACCATGTG
Phenotype
MIM: 613276
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
USB1 PubMed Links

Gene Details

Gene
USB1
Gene Name
U6 snRNA biogenesis phosphodiesterase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195302.1 320 Nonsense Mutation TGA,TGG *81W NP_001182231.1
NM_001204911.1 320 Nonsense Mutation TGA,TGG *81W NP_001191840.1
NM_024598.3 320 Nonsense Mutation TGA,TGG *81W NP_078874.2
XM_005256144.3 320 Nonsense Mutation TGA,TGG *30W XP_005256201.1
XM_011523328.2 320 Nonsense Mutation TGA,TGG *68W XP_011521630.1
XM_011523329.2 320 Nonsense Mutation TGA,TGG *30W XP_011521631.1
XM_011523330.1 320 Nonsense Mutation TGA,TGG *81W XP_011521632.1
Gene
ZNF319
Gene Name
zinc finger protein 319
There are no transcripts associated with this gene.

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