Product Details

SNP ID

rs201968689

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:31852159 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACACTCAATCTTCAGCATCGTCAA[A/G]CTGTCCTGTTTCAAAGACCATCTTG

Phenotype

Polymorphism

A/G, 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	643	Missense Mutation	CTT,TTT	L179F	NP_060875.2
XM_005258000.1	643	Missense Mutation	CTT,TTT	L167F	XP_005258057.1

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