Product Details

SNP ID

rs199653056

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:104250746 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGGTAGTTGTGGCACCAGATGAA[C/T]ACACAAAGCAGGATCCAGAGCAGGA

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	772	Missense Mutation	ATT,GTT	I235V	NP_703149.1

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