Product Details

SNP ID

rs144948361

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:104250862 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCAACATTAGCACCCTCTGATTT[C/T]GTTTCCACTTGGCTCTTCTGTTCTG

Phenotype

MIM: 300154

Polymorphism

C/T, 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	656	Missense Mutation	CAA,CGA	Q196R	NP_703149.1

View Full Product Details