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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