Product Details

SNP ID
rs199508871
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50375810 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCCACCCCAGAAGAAAACCAAGC[C/T]GAGTCAGAAGGTCCAGGGAAGAGGC
Phenotype
MIM: 610885 MIM: 614854 MIM: 611837
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EME1 PubMed Links

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_001166131.1 684 Missense Mutation CCG,CTG P201L NP_001159603.1
NM_152463.2 684 Missense Mutation CCG,CTG P201L NP_689676.2
XM_005257081.3 684 Intron XP_005257138.1
XM_011524395.2 684 Intron XP_011522697.1
XM_017024236.1 684 Missense Mutation CCG,CTG P201L 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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