Product Details

SNP ID

rs150407533

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:57159202 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACACCAGGTTGATCTTGCCCCTGG[A/C]TCTGGCTTGATTCTAAAGTCTCAGC

Phenotype

MIM: 611168

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DUXA PubMed Links

Gene Details

Gene

DUXA

Gene Name

double homeobox A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012729.1	302	Missense Mutation	AGC,ATC	S86I	NP_001012747.1

View Full Product Details