Product Details

SNP ID

rs12383583

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:104250272 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATAACTGTTGATGACAGGGGCCC[A/G]TGTGATGTGTACAGGAGCCAGGCCA

Phenotype

MIM: 300154

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ESX1 PubMed Links

Gene Details

Gene

ESX1

Gene Name

ESX homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153448.3	1246	Missense Mutation	AGG,GGG	R393G	NP_703149.1

View Full Product Details