Product Details

SNP ID: rs59395427
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:42962247 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATTATGCTGGTGGAAGAGGGCTTCA[A/G]TGTGACGAGTGTGGATGCCAGTGAC
Phenotype: MIM: 606628 MIM: 601498
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CNPY3-GNMT PubMed Links

Gene Details

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318856.1	256	Missense Mutation	AAT,AGT	N15S	NP_001305785.1
NM_001318857.1	256	Intron			NP_001305786.1
NM_001318858.1	256	Intron			NP_001305787.1

Gene: GNMT
Gene Name: glycine N-methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318865.1	256	Missense Mutation	AAT,AGT	N81S	NP_001305794.1
NM_018960.5	256	Missense Mutation	AAT,AGT	N81S	NP_061833.1

Gene: PEX6
Gene Name: peroxisomal biogenesis factor 6

There are no transcripts associated with this gene.

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