Product Details

SNP ID
rs77048088
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6972507 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCTTCCAAAACTTGTATTTGTAT[A/G]TAACAGTTTGTTTTTAGACTTTTTA
Phenotype
MIM: 611531 MIM: 611950 MIM: 612093 MIM: 612092 MIM: 610704 MIM: 615642
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 Intron NP_001306978.1
NM_006331.7 Intron NP_006322.4
Gene
LOC105369635
Gene Name
uncharacterized LOC105369635
There are no transcripts associated with this gene.

Gene
LPCAT3
Gene Name
lysophosphatidylcholine acyltransferase 3
There are no transcripts associated with this gene.

Gene
MIR141
Gene Name
microRNA 141
There are no transcripts associated with this gene.

Gene
MIR200C
Gene Name
microRNA 200c
There are no transcripts associated with this gene.

Gene
PHB2
Gene Name
prohibitin 2
There are no transcripts associated with this gene.

Gene
SCARNA12
Gene Name
small Cajal body-specific RNA 12
There are no transcripts associated with this gene.

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