Product Details

SNP ID

rs11550213

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:128622254 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCCTTGTGTTCAGTCTCCAGGCT[A/C]TTCTTGCCACTGTTGAGGGTGGAGA

Phenotype

MIM: 180470

Polymorphism

A/C, Transversion 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	1627	Missense Mutation	AAG,AAT	K517N	NP_002941.1

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