Product Details

SNP ID

rs142016449

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:17969986 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTGGCCGGAAGAAAAAAGTGAAC[C/G]CATATGAAGAAGTGGACCAAGAAAA

Phenotype

MIM: 615076 MIM: 605937

Polymorphism

C/G, 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	385	Missense Mutation	CCA,GCA	P43A	NP_001297267.1
NM_001310339.1	385	Missense Mutation	CCA,GCA	P43A	NP_001297268.1
NM_052865.3	385	Missense Mutation	CCA,GCA	P43A	NP_443097.1
XM_005260867.2	385	Missense Mutation	CCA,GCA	P43A	XP_005260924.1
XM_005260870.3	385	Missense Mutation	CCA,GCA	P43A	XP_005260927.1
XM_006723663.3	385	Missense Mutation	CCA,GCA	P43A	XP_006723726.1
XM_011529394.1	385	Missense Mutation	CCA,GCA	P43A	XP_011527696.1
XM_011529395.1	385	Missense Mutation	CCA,GCA	P43A	XP_011527697.1
XM_017028127.1	385	Missense Mutation	CCA,GCA	P43A	XP_016883616.1
XM_017028128.1	385	Missense Mutation	CCA,GCA	P43A	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	385	Intron			NP_001269383.1
NM_014426.3	385	Intron			NP_055241.1
NM_152227.2	385	Intron			NP_689413.1

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