Product Details

SNP ID
rs143057250
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57198465 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATCGATACCAGGATAGCAGTTTA[C/T]TCTAAAGACATTTTCTAACACTTCA
Phenotype
MIM: 601802
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HESX1 PubMed Links

Gene Details

Gene
HESX1
Gene Name
HESX homeobox 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003865.2 613 Missense Mutation ATA,GTA I129V NP_003856.1
XM_005265526.4 613 Missense Mutation ATA,GTA I129V XP_005265583.1
XM_006713379.3 613 Missense Mutation ATA,GTA I129V XP_006713442.1
XM_011534204.2 613 Missense Mutation ATA,GTA I129V XP_011532506.1
XM_011534205.2 613 Missense Mutation ATA,GTA I129V XP_011532507.1
XM_017007421.1 613 Missense Mutation ATA,GTA I129V XP_016862910.1

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