Product Details

SNP ID

rs1812240

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:42516100 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCTCCTGCAACTCTACAGACTGGA[C/T]GAGGCCACAGGTGGACAGGAGGCGG

Phenotype

MIM: 607979

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RRP7A PubMed Links

Gene Details

Gene

RRP7A

Gene Name

ribosomal RNA processing 7 homolog A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015703.4	290	Missense Mutation	ATC,GTC	I85V	NP_056518.2

Gene

SERHL

Gene Name

serine hydrolase-like (pseudogene)

There are no transcripts associated with this gene.

View Full Product Details