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SNP ID: rs1051224
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:42964070 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAGCCCTCTCAGGGCCCAATCCCCA[A/G]AACCCAAGGCCCTGGCCCTCTTCCT
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	3301	Intron			NP_001305785.1
NM_001318857.1	3301	Intron			NP_001305786.1
NM_001318858.1	3301	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	3301	Intron			NP_001305794.1
NM_018960.5	3301	Intron			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	3301	UTR 3			NP_000278.3
NM_001316313.1	3301	UTR 3			NP_001303242.1
XM_011514661.1	3301	UTR 3			XP_011512963.1

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