Product Details

SNP ID
rs142001430
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:17969694 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCAGGGTCTCGCTCTGTCGACT[G/T]TCTTAAGAAAGGGCTCTGTCCAAAC
Phenotype
MIM: 615076 MIM: 605937
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
MGME1 PubMed Links

Gene Details

Gene
MGME1
Gene Name
mitochondrial genome maintenance exonuclease 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001310338.1 Intron NP_001297267.1
NM_001310339.1 Intron NP_001297268.1
NM_052865.3 Intron NP_443097.1
XM_005260867.2 Intron XP_005260924.1
XM_005260870.3 Intron XP_005260927.1
XM_006723663.3 Intron XP_006723726.1
XM_011529394.1 Intron XP_011527696.1
XM_011529395.1 Intron XP_011527697.1
XM_017028127.1 Intron XP_016883616.1
XM_017028128.1 Intron XP_016883617.1
Gene
SNORD17
Gene Name
small nucleolar RNA, C/D box 17
There are no transcripts associated with this gene.

Gene
SNX5
Gene Name
sorting nexin 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282454.1 Intron NP_001269383.1
NM_014426.3 Intron NP_055241.1
NM_152227.2 Intron NP_689413.1

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