Product Details

SNP ID

rs143272788

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:60942395 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTCTTTGTCTCCAAATTTGAAAG[C/T]TAGTCATCCAGAGCAGGTGGCCAGT

Phenotype

MIM: 612787

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NONOP2 PubMed Links

Gene Details

Gene

NONOP2

Gene Name

non-POU domain containing, octamer-binding pseudogene 2

There are no transcripts associated with this gene.

Gene

PUS10

Gene Name

pseudouridylate synthase 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322123.1	1729	Silent Mutation	TAA,TAG	*530*	NP_001309052.1
NM_001322124.1	1729	Silent Mutation	TAA,TAG	*530*	NP_001309053.1
NM_001322127.1	1729	Silent Mutation	TAA,TAG	*307*	NP_001309056.1
NM_144709.3	1729	Silent Mutation	TAA,TAG	*530*	NP_653310.2
XM_011532568.2	1729	Silent Mutation	TAA,TAG	*530*	XP_011530870.1
XM_011532570.1	1729	Silent Mutation	TAA,TAG	*530*	XP_011530872.1
XM_011532571.1	1729	Silent Mutation	TAA,TAG	*530*	XP_011530873.1
XM_011532572.1	1729	Silent Mutation	TAA,TAG	*530*	XP_011530874.1
XM_011532573.2	1729	Silent Mutation	TAA,TAG	*530*	XP_011530875.1
XM_011532574.2	1729	Silent Mutation	TAA,TAG	*530*	XP_011530876.1
XM_011532576.2	1729	Silent Mutation	TAA,TAG	*530*	XP_011530878.1
XM_011532578.1	1729	Silent Mutation	TAA,TAG	*467*	XP_011530880.1
XM_017003428.1	1729	Silent Mutation	TAA,TAG	*445*	XP_016858917.1
XM_017003429.1	1729	Silent Mutation	TAA,TAG	*445*	XP_016858918.1

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