Product Details

SNP ID

rs114632703

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:43791359 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGTTTTGATGCAGGTGGTTTTA[C/T]GCACGACGAGCTGCTGAAGGTGTGG

Phenotype

MIM: 610653

Polymorphism

C/T, Transition 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	227	Missense Mutation	ACG,ATG	T48M	NP_003674.1
XM_017028485.1	227	Missense Mutation	ACG,ATG	T48M	XP_016883974.1
XM_017028486.1	227	UTR 5			XP_016883975.1

View Full Product Details