Product Details

SNP ID
rs200388174
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:27793853 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCGCAAGGCTGCAAGTGCGCATCG[A/C]TCTCCTCAGCCAAGTGCTCCGAGGA
Phenotype
MIM: 616542
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
GSX1 PubMed Links

Gene Details

Gene
GSX1
Gene Name
GS homeobox 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145657.2 748 Missense Mutation ATC,CTC I234L NP_663632.1

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