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SNP ID

rs112235025

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6981003 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATCTGGACCAAGAGGGGCAATTA[C/G]CTGTTTGGTATCTTTCCTGGTATGT

Phenotype

MIM: 611531 MIM: 611950

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EMG1 PubMed Links

Gene Details

Gene

EMG1

Gene Name

EMG1, N1-specific pseudouridine methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320049.1		Intron			NP_001306978.1
NM_006331.7		Intron			NP_006322.4

Gene

LPCAT3

Gene Name

lysophosphatidylcholine acyltransferase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005768.5		Intron			NP_005759.4

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