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SNP ID

rs141132997

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:42962846 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTTGATGCTGTCATCTGCCTTG[G/T]AAACAGTTTCGCTCACTTGCCAGAC

Phenotype

MIM: 606628 MIM: 601498

Polymorphism

G/T, 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	433	Missense Mutation	GGA,GTA	G74V	NP_001305785.1
NM_001318857.1	433	Missense Mutation	GGA,GTA	G79V	NP_001305786.1
NM_001318858.1	433	Missense Mutation	GGA,GTA	G79V	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	433	Missense Mutation	GGA,GTA	G140V	NP_001305794.1
NM_018960.5	433	Missense Mutation	GGA,GTA	G140V	NP_061833.1

Gene

PEX6

Gene Name

peroxisomal biogenesis factor 6

There are no transcripts associated with this gene.

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