Product Details

SNP ID

rs139543229

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:104250724 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCACAGGCAGCACAGGTGGTCTA[C/G]GTAGTTGTGGCACCAGATGAACACA

Phenotype

MIM: 300154

Polymorphism

C/G, Transversion 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	794	Missense Mutation	CCT,CGT	P242R	NP_703149.1

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