Product Details

SNP ID

rs199804262

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:77636964 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCGTCCGGTGGCGCTTCTGCTTCT[G/T]TTGGCCCTGCTGCTGGCCGGCTTGG

Phenotype

MIM: 604529

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

OTP PubMed Links

Gene Details

Gene

OTP

Gene Name

orthopedia homeobox

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032109.2	452	Missense Mutation	AAG,CAG	K102Q	NP_115485.1

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