Product Details

SNP ID

rs112187400

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:155503084 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGCACTCCTAGAGCTCAGTATGA[C/T]TAGCAGAAGTTTCACACAGATCTGG

Phenotype

MIM: 612493

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CNPY1 PubMed Links

Gene Details

Gene

CNPY1

Gene Name

canopy FGF signaling regulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001103176.1	408	Missense Mutation	AAT,AGT	N88S	NP_001096646.1

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