Product Details

SNP ID: rs11064480
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:6971024 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: CCACCCAAGCGGCCCCGACTAGGGG[C/G]AGGAAACAAGATCGGAGGCCGTAGG
Phenotype: MIM: 611531 MIM: 611950 MIM: 612093 MIM: 612092 MIM: 610704 MIM: 176883 MIM: 615642
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	244	Missense Mutation	GCA,GGA	A34G	NP_001306978.1
NM_006331.7	244	Missense Mutation	GCA,GGA	A34G	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144831.1	244	Intron			NP_001138303.1
NM_001267700.1	244	Intron			NP_001254629.1

Gene: PTPN6
Gene Name: protein tyrosine phosphatase, non-receptor type 6

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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