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SNP ID: rs202053748
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:42963079 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCGTGCCTGGAGCTCAGGGGACCA[C/G]AGTGAGCACCGGCTGGCGCTGAAAA
Phenotype: MIM: 606628 MIM: 601498
Polymorphism: C/G, 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	473	Missense Mutation	CAC,CAG	H87Q	NP_001305785.1
NM_001318857.1	473	Missense Mutation	CAC,CAG	H92Q	NP_001305786.1
NM_001318858.1	473	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	473	Intron			NP_001305794.1
NM_018960.5	473	Missense Mutation	CAC,CAG	H153Q	NP_061833.1

Gene: PEX6
Gene Name: peroxisomal biogenesis factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000287.3	473	Intron			NP_000278.3
NM_001316313.1	473	Intron			NP_001303242.1
XM_011514661.1	473	Intron			XP_011512963.1

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