Product Details

SNP ID

rs11700054

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:17962816 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCCTGCCAACACACAAGCAGTTC[A/T]CAGTAGAACACTGCAGACTGCAGGG

Phenotype

MIM: 615076 MIM: 605937

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

MGME1 PubMed Links

Gene Details

Gene

MGME1

Gene Name

mitochondrial genome maintenance exonuclease 1

There are no transcripts associated with this gene.

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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