Product Details

SNP ID
rs112336061
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:42960854 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTACGCGGACGGGGAGGCGGCGCG[A/C]GTGTGGCAGCTGTATATCGGAGACA
Phenotype
MIM: 606628 MIM: 601498
Polymorphism
A/C, Transversion 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_001318856.1 101 Intron NP_001305785.1
NM_001318857.1 101 Intron NP_001305786.1
NM_001318858.1 101 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_001318865.1 101 Silent Mutation CGA,CGC R29R NP_001305794.1
NM_018960.5 101 Silent Mutation CGA,CGC R29R NP_061833.1
Gene
PEX6
Gene Name
peroxisomal biogenesis factor 6
There are no transcripts associated with this gene.

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