Product Details

SNP ID

rs34781001

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:128620588 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTGCATCCAGCTTCTGCATTTC[A/G]CTCACCTGGCCGAGGCAAGAGCAGG

Phenotype

MIM: 180470

Polymorphism

A/G, 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	1723	Silent Mutation	AGC,AGT	S549S	NP_002941.1

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