Product Details

SNP ID

rs143584803

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68896525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCGGTGGTCTCACCTTCTCCAGT[C/T]GAATTCTCTCTCCACACGCAAGGTC

Phenotype

MIM: 600502 MIM: 611834

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IGHMBP2 PubMed Links

Gene Details

Gene

IGHMBP2

Gene Name

immunoglobulin mu binding protein 2

There are no transcripts associated with this gene.

Gene

MRPL21

Gene Name

mitochondrial ribosomal protein L21

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181514.1	424	Missense Mutation	CAA,CGA	Q129R	NP_852615.1
NM_181515.1	424	Missense Mutation	CAA,CGA	Q44R	NP_852616.1
XM_005273823.4	424	Missense Mutation	CAA,CGA	Q129R	XP_005273880.1

View Full Product Details