Product Details

SNP ID
rs80101148
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6977740 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAAGGAACTTGAGTCGTTTGAAG[A/G]TGTAGCTGGAGAAAAGGGTGGGTGG
Phenotype
MIM: 611531 MIM: 611950 MIM: 610704
Polymorphism
A/G, Transition 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 1160 Intron NP_001306978.1
NM_006331.7 1160 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 1160 Missense Mutation ACC,ATC T349I NP_005759.4
Gene
PHB2
Gene Name
prohibitin 2
There are no transcripts associated with this gene.

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