Product Details

SNP ID

rs114296196

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:43793323 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGGCTTATTCCTTCTCCAGAGCA[A/C]CTGTTCCTTCAGGCCTTCTGGCAGA

Phenotype

MIM: 610653

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RRP1 PubMed Links

Gene Details

Gene

RRP1

Gene Name

ribosomal RNA processing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003683.5	363	Missense Mutation	CAA,CAC	Q93H	NP_003674.1
XM_017028485.1	363	Missense Mutation	CAA,CAC	Q93H	XP_016883974.1
XM_017028486.1	363	UTR 5			XP_016883975.1

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