Product Details

SNP ID
rs199799627
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:56802249 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTCCACTCTCTGAACTCACTTCC[C/T]GAGCTGGAGATGTCTTCTTTTTGGC
Phenotype
MIM: 600037
Polymorphism
C/T, Transition 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_001270523.1 793 Missense Mutation CCG,CTG P119L NP_001257452.1
NM_001270524.1 793 Missense Mutation CCG,CTG P119L NP_001257453.1
NM_001270525.1 793 Missense Mutation CCG,CTG P127L NP_001257454.1
NM_021728.3 793 Missense Mutation CCG,CTG P127L NP_068374.1
NM_172337.2 793 Missense Mutation CCG,CTG P119L NP_758840.1

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