Product Details

SNP ID
rs184749315
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:104250233 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGTTATGAATACCTTACTTTAGA[A/G]AAAGGGACATGCATAATAACTGTTG
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 1285 Missense Mutation CTC,TTC L406F NP_703149.1

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