Product Details

SNP ID
rs73264617
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6978519 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCATACTCCTTCCTGAGAGGGAA[C/T]AGCTCAGTTAGGGCTCTTGCCACTC
Phenotype
MIM: 611531 MIM: 611950 MIM: 610704
Polymorphism
C/T, 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 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
Gene
PHB2
Gene Name
prohibitin 2
There are no transcripts associated with this gene.

View Full Product Details