Product Details

SNP ID

rs113946450

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:218285330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCGCAGAAAAATGGCAGCCGCCG[C/T]TCCGGACTCACGTGTGAGTGAGGAA

Phenotype

MIM: 611193

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RRP15 PubMed Links

Gene Details

Gene

RRP15

Gene Name

ribosomal RNA processing 15 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016052.3	44	Missense Mutation	GCT,GTT	A5V	NP_057136.2
XM_011509597.2	44	Missense Mutation	GCT,GTT	A5V	XP_011507899.1

View Full Product Details