Product Details

SNP ID
rs148313225
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:1775066 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTCTGGCCCAACCCACTGGGTGC[C/T]CTGGATCTCCCCCGAGACCACCGCC
Phenotype
MIM: 610886 MIM: 605431 MIM: 611994 MIM: 601817 MIM: 610779 MIM: 611659
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
EME2 PubMed Links

Gene Details

Gene
EME2
Gene Name
essential meiotic structure-specific endonuclease subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257370.1 425 Missense Mutation CCC,CTC P168L NP_001244299.1
XM_017023025.1 425 Missense Mutation CCC,CTC P140L XP_016878514.1
XM_017023026.1 425 Missense Mutation CCC,CTC P137L XP_016878515.1
Gene
MAPK8IP3
Gene Name
mitogen-activated protein kinase 8 interacting protein 3
There are no transcripts associated with this gene.

Gene
MRPS34
Gene Name
mitochondrial ribosomal protein S34
There are no transcripts associated with this gene.

Gene
NME3
Gene Name
NME/NM23 nucleoside diphosphate kinase 3
There are no transcripts associated with this gene.

Gene
NUBP2
Gene Name
nucleotide binding protein 2
There are no transcripts associated with this gene.

Gene
SPSB3
Gene Name
splA/ryanodine receptor domain and SOCS box containing 3
There are no transcripts associated with this gene.

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