Product Details

SNP ID

rs11543214

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1770952 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTCGGCCGGGTTCGTGGCTCCGAT[G/T]AGCGCCCGCGAGGTGCGCACCACGT

Phenotype

MIM: 610886 MIM: 605431 MIM: 611994 MIM: 601817 MIM: 611659

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EME2 PubMed Links

Gene Details

Gene

EME2

Gene Name

essential meiotic structure-specific endonuclease subunit 2

There are no transcripts associated with this gene.

Gene

MAPK8IP3

Gene Name

mitogen-activated protein kinase 8 interacting protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040439.1	543	Intron			NP_001035529.1
NM_001318852.1	543	Intron			NP_001305781.1
NM_015133.4	543	Intron			NP_055948.2
XM_005255190.2	543	Intron			XP_005255247.1
XM_006720869.2	543	Intron			XP_006720932.1
XM_011522429.2	543	Intron			XP_011520731.1
XM_011522430.2	543	Intron			XP_011520732.1
XM_011522431.2	543	Intron			XP_011520733.1
XM_011522432.2	543	Intron			XP_011520734.1
XM_011522433.2	543	Intron			XP_011520735.1
XM_017023079.1	543	Intron			XP_016878568.1
XM_017023080.1	543	Intron			XP_016878569.1
XM_017023081.1	543	Intron			XP_016878570.1

Gene

MRPS34

Gene Name

mitochondrial ribosomal protein S34

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300900.1	543	Intron			NP_001287829.1
NM_023936.1	543	Intron			NP_076425.1
XM_017023595.1	543	Intron			XP_016879084.1

Gene

NME3

Gene Name

NME/NM23 nucleoside diphosphate kinase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002513.2	543	Silent Mutation	CTA,CTC	L107L	NP_002504.2
XM_005255332.4	543	Silent Mutation	CTA,CTC	L107L	XP_005255389.1
XM_011522503.2	543	Nonsense Mutation	TAA,TCA	*111S	XP_011520805.1
XM_011522504.2	543	Nonsense Mutation	TAA,TCA	*111S	XP_011520806.1

Gene

SPSB3

Gene Name

splA/ryanodine receptor domain and SOCS box containing 3

There are no transcripts associated with this gene.

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