Product Details

SNP ID
rs1051888
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:110618194 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCCGGGTTCTGCACGCTGGCGTA[C/G]CCGAAGCTGGAGTGCTGCTTTGCTT
Phenotype
MIM: 601542
Polymorphism
C/G, 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 2336 Silent Mutation GGC,GGG G302G NP_000316.2
NM_001204397.1 2336 Silent Mutation GGC,GGG G295G NP_001191326.1
NM_001204398.1 2336 Silent Mutation GGC,GGG G295G NP_001191327.1
NM_001204399.1 2336 Silent Mutation GGC,GGG G249G NP_001191328.1
NM_153426.2 2336 Silent Mutation GGC,GGG G295G NP_700475.1
NM_153427.2 2336 Silent Mutation GGC,GGG G249G NP_700476.1
XM_011532027.2 2336 Silent Mutation GGC,GGG G249G XP_011530329.1

View Full Product Details