Product Details

SNP ID

rs142889882

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:128622303 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGTCCCGGGATTGCTTGTACCTA[C/T]TGACGGTCTCGTCAAAGTGACGGTA

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	1578	Missense Mutation	AAT,AGT	N501S	NP_002941.1

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