Product Details

SNP ID
rs147454219
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:197917975 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGAGGCCCGTCTGGCCAAAGGCG[C/T]CCAGCTCAACGGCCGCGACGCGGTA
Phenotype
MIM: 606066
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LHX9 PubMed Links

Gene Details

Gene
LHX9
Gene Name
LIM homeobox 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014434.1 895 Missense Mutation GCC,GTC A42V NP_001014434.1
NM_020204.2 895 Missense Mutation GCC,GTC A51V NP_064589.2
XM_005245350.3 895 Missense Mutation GCC,GTC A57V XP_005245407.2
XM_011509781.2 895 Missense Mutation GCC,GTC A57V XP_011508083.2
XM_017001849.1 895 Missense Mutation GCC,GTC A32V XP_016857338.1

View Full Product Details