Product Details

SNP ID

rs199498915

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50368220 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACAGCCTCCGTGTTTCTGGGAT[A/G]AGGCACGTAGACCTCCTTAGTGTAG

Phenotype

MIM: 610885 MIM: 611837 MIM: 608125

Polymorphism

A/G, 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

MRPL27

Gene Name

mitochondrial ribosomal protein L27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016504.2	350	Missense Mutation	CAT,TAT	H107Y	NP_057588.1

Gene

XYLT2

Gene Name

xylosyltransferase 2

There are no transcripts associated with this gene.

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