Product Details

SNP ID
rs104893860
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:110618542 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCGGATGTAAGGCCCTTGGCGGC[C/T]CAGTTGTTGTAGGAATAGCCTGGGT
Phenotype
MIM: 601542
Polymorphism
C/T, Transition 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 1988 Nonsense Mutation TGA,TGG *186W NP_000316.2
NM_001204397.1 1988 Nonsense Mutation TGA,TGG *179W NP_001191326.1
NM_001204398.1 1988 Nonsense Mutation TGA,TGG *179W NP_001191327.1
NM_001204399.1 1988 Nonsense Mutation TGA,TGG *133W NP_001191328.1
NM_153426.2 1988 Nonsense Mutation TGA,TGG *179W NP_700475.1
NM_153427.2 1988 Nonsense Mutation TGA,TGG *133W NP_700476.1
XM_011532027.2 1988 Nonsense Mutation TGA,TGG *133W XP_011530329.1

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