Product Details

SNP ID

rs190121355

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:34856937 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGTGGCTCCTGTCTCACTGGGG[A/G]TGGTGTCAGTTTGAAAGGCTGGAGT

Phenotype

MIM: 610548

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AQR PubMed Links

Gene Details

Gene

AQR

Gene Name

aquarius intron-binding spliceosomal factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014691.2	4494	Missense Mutation	ACC,ATC	T1438I	NP_055506.1

View Full Product Details