Product Details

SNP ID
rs104893859
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:110618669 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCTCCCTCTTTCTCCATTTGGCC[G/C]GACGATTCTTGAACCAAACCTGGGG
Phenotype
MIM: 601542
Polymorphism
G/C, Transversion substitution
Allele Nomenclature
Literature Links
PITX2 PubMed Links

Gene Details

Gene
PITX2
Gene Name
paired like homeodomain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000325.5 1861 Missense Mutation CCG,CGG P144R NP_000316.2
NM_001204397.1 1861 Missense Mutation CCG,CGG P137R NP_001191326.1
NM_001204398.1 1861 Missense Mutation CCG,CGG P137R NP_001191327.1
NM_001204399.1 1861 Missense Mutation CCG,CGG P91R NP_001191328.1
NM_153426.2 1861 Missense Mutation CCG,CGG P137R NP_700475.1
NM_153427.2 1861 Missense Mutation CCG,CGG P91R NP_700476.1
XM_011532027.2 1861 Missense Mutation CCG,CGG P91R XP_011530329.1

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