Product Details

SNP ID

rs146107622

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:128620546 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGCTCAGCCTCCACCGCCGACTT[C/T]AGCACCAGCTCCTTGACCTGTGCAT

Phenotype

MIM: 180470

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RPN1 PubMed Links

Gene Details

Gene

RPN1

Gene Name

ribophorin I

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002950.3	1765	Silent Mutation	CTA,CTG	L563L	NP_002941.1

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