Product Details

SNP ID

rs141518595

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:43669932 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAAAATCTGGAAGGGGCTCTTCT[A/C]CTGCATGTGGGTGCAGGATGAACCC

Phenotype

MIM: 610654

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RRP1B PubMed Links

Gene Details

Gene

RRP1B

Gene Name

ribosomal RNA processing 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015056.2	293	Missense Mutation	TAC,TCC	Y60S	NP_055871.1

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