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SNP ID: rs201250569
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:42934477 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGTGCTACCTCCCTCCCCCAGTG[C/T]GTAAATATGTTGCTGTGGAGCTGAA
Phenotype: MIM: 610774 MIM: 606817
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CNPY3 PubMed Links

Gene Details

Gene: CNPY3
Gene Name: canopy FGF signaling regulator 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318842.1	595	Missense Mutation	CGT,TGT	R52C	NP_001305771.1
NM_001318845.1	595	Intron			NP_001305774.1
NM_001318847.1	595	Missense Mutation	CGT,TGT	R52C	NP_001305776.1
NM_001318848.1	595	Missense Mutation	CGT,TGT	R52C	NP_001305777.1
NM_006586.4	595	Missense Mutation	CGT,TGT	R52C	NP_006577.2

Gene: CNPY3-GNMT
Gene Name: CNPY3-GNMT readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318856.1	595	Intron			NP_001305785.1
NM_001318857.1	595	Intron			NP_001305786.1
NM_001318858.1	595	Intron			NP_001305787.1

Gene: PTCRA
Gene Name: pre T-cell antigen receptor alpha

There are no transcripts associated with this gene.

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