Product Details

SNP ID

rs11542475

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:31852815 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCAGAGACTCCACACCTACCAT[G/A]TGGATTCCCTTGATCTGCTTTCAAC

Phenotype

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

COPRS PubMed Links

Gene Details

Gene

COPRS

Gene Name

coordinator of PRMT5 and differentiation stimulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018405.3	490	Missense Mutation	CAT,TAT	H128Y	NP_060875.2
XM_005258000.1	490	Missense Mutation	CAT,TAT	H116Y	XP_005258057.1

Gene

UTP6

Gene Name

UTP6, small subunit processome component

There are no transcripts associated with this gene.

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