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SNP ID

rs148233924

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:201963632 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAAAATAGGTAGCTTTGCAGTTTG[G/T]GGAGGGCTGTTTTCCATGATTGACT

Phenotype

MIM: 605057

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

TIMM17A PubMed Links

Gene Details

Gene

TIMM17A

Gene Name

translocase of inner mitochondrial membrane 17 homolog A (yeast)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006335.2	243	Missense Mutation	TGG,TGT	W69C	NP_006326.1

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