Product Details

SNP ID
rs199761861
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:56802204 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGGTCGGGACTGAGGTGCTAGAG[C/G]GGGGAGTGAATTGGCCACTTGTTCC
Phenotype
MIM: 600037
Polymorphism
C/G, 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_001270523.1 838 Missense Mutation CCC,CGC P134R NP_001257452.1
NM_001270524.1 838 Missense Mutation CCC,CGC P134R NP_001257453.1
NM_001270525.1 838 Missense Mutation CCC,CGC P142R NP_001257454.1
NM_021728.3 838 Missense Mutation CCC,CGC P142R NP_068374.1
NM_172337.2 838 Missense Mutation CCC,CGC P134R NP_758840.1

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