Product Details

SNP ID
rs147543001
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:110618131 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGCGCTGTGGGTGCGGCTCACAC[A/G]GGCCGGTCCACTGCATACTGGCAAG
Phenotype
MIM: 601542
Polymorphism
A/G, 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 2399 Silent Mutation NP_000316.2
NM_001204397.1 2399 Silent Mutation NP_001191326.1
NM_001204398.1 2399 Silent Mutation NP_001191327.1
NM_001204399.1 2399 Silent Mutation NP_001191328.1
NM_153426.2 2399 Silent Mutation NP_700475.1
NM_153427.2 2399 Silent Mutation NP_700476.1
XM_011532027.2 2399 Silent Mutation XP_011530329.1

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