Product Details

SNP ID

rs146642281

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50383034 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGACCCACTGGAGGATCTCATGG[C/T]GGCGTAGACCCTGGACCGCATTGTC

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

There are no transcripts associated with this gene.

Gene

LRRC59

Gene Name

leucine rich repeat containing 59

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018509.3	1114	Missense Mutation	CAC,CGC	H293R	NP_060979.2

Gene

MRPL27

Gene Name

mitochondrial ribosomal protein L27

There are no transcripts associated with this gene.

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