Product Details

SNP ID

rs138566184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50375795 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAATTCTGACATCCTTCCACCCC[A/G]GAAGAAAACCAAGCCGAGTCAGAAG

Phenotype

MIM: 610885 MIM: 614854 MIM: 611837

Polymorphism

A/G, 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	669	Missense Mutation	CAG,CGG	Q196R	NP_001159603.1
NM_152463.2	669	Missense Mutation	CAG,CGG	Q196R	NP_689676.2
XM_005257081.3	669	Intron			XP_005257138.1
XM_011524395.2	669	Intron			XP_011522697.1
XM_017024236.1	669	Missense Mutation	CAG,CGG	Q196R	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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