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SNP ID: rs200922476
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:6978389 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GATGTTGAATGAGGCAATGGTGCCA[A/G]TGAAGCGGGGGTTTGTTTCAAAGAG
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	1106	Intron			NP_001306978.1
NM_006331.7	1106	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	1106	Missense Mutation	ACT,ATT	T331I	NP_005759.4

Gene: PHB2
Gene Name: prohibitin 2

There are no transcripts associated with this gene.

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