Product Details

SNP ID
rs140517067
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50375404 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGCACCAGAGTTATTTTCACCA[C/G]CTGTCCCAGAAATAGCTGAAACTGT
Phenotype
MIM: 610885 MIM: 614854 MIM: 611837
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
EME1 PubMed Links
Additional Information
For this assay, SNP(s) [rs17714854] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
EME1
Gene Name
essential meiotic structure-specific endonuclease 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166131.1 274 Missense Mutation CCT,GCT P66A NP_001159603.1
NM_152463.2 274 Missense Mutation CCT,GCT P66A NP_689676.2
XM_005257081.3 274 Missense Mutation CCT,GCT P66A XP_005257138.1
XM_011524395.2 274 UTR 5 XP_011522697.1
XM_017024236.1 274 Missense Mutation CCT,GCT P66A XP_016879725.1
Gene
LRRC59
Gene Name
leucine rich repeat containing 59
There are no transcripts associated with this gene.

Gene
MRPL27
Gene Name
mitochondrial ribosomal protein L27
There are no transcripts associated with this gene.

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