Product Details

SNP ID

rs147523675

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:30904263 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCAAAGTTTTCTCTGTGCTCTA[C/T]GATATTGATGGACCTTCTTCCACGA

Phenotype

MIM: 609534 MIM: 616422

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATAD5 PubMed Links

Gene Details

Gene

ATAD5

Gene Name

ATPase family, AAA domain containing 5

There are no transcripts associated with this gene.

Gene

TEFM

Gene Name

transcription elongation factor, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024683.3	852	Missense Mutation	ATA,GTA	I100V	NP_078959.3
XM_006722084.1	852	UTR 5			XP_006722147.1

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