Product Details

SNP ID

rs187191488

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6969555 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCTGGCCCGAATGTCATAGATAA[C/T]GGGGTACTGGAACCAAGGGATCCTG

Phenotype

MIM: 611531 MIM: 611950 MIM: 612093 MIM: 612092 MIM: 610704 MIM: 176883 MIM: 615642

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EMG1 PubMed Links

Gene Details

Gene

EMG1

Gene Name

EMG1, N1-specific pseudouridine methyltransferase

There are no transcripts associated with this gene.

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	445	Missense Mutation	ATT,GTT	I79V	NP_001138303.1
NM_001267700.1	445	Missense Mutation	ATT,GTT	I79V	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.

View Full Product Details