Product Details

SNP ID

rs143139589

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:104252799 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTACTGACCTGCACTCTGTCTTCA[C/G]TCAAATTCAGGCGTGCTGCAAGTCT

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	605	Missense Mutation	ACT,AGT	T179S	NP_703149.1

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