Product Details

SNP ID
rs142205965
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:56802042 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGTAGGAAGTTGAGCCAGCATAT[A/C]CTTGACTATAACCTGAAGCCTGAGT
Phenotype
MIM: 600037
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
OTX2 PubMed Links

Gene Details

Gene
OTX2
Gene Name
orthodenticle homeobox 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270523.1 1000 Missense Mutation GGA,GTA G188V NP_001257452.1
NM_001270524.1 1000 Missense Mutation GGA,GTA G188V NP_001257453.1
NM_001270525.1 1000 Missense Mutation GGA,GTA G196V NP_001257454.1
NM_021728.3 1000 Missense Mutation GGA,GTA G196V NP_068374.1
NM_172337.2 1000 Missense Mutation GGA,GTA G188V NP_758840.1

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