Product Details

SNP ID

rs946319

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:46635373 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGATTAAAGCCCATATCTAACTA[C/T]AGCAGGTCTTCAAGCTTATTATCCT

Phenotype

MIM: 608917

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATPAF1 PubMed Links

Gene Details

Gene

ATPAF1

Gene Name

ATP synthase mitochondrial F1 complex assembly factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042546.2	1447	UTR 3			NP_001036011.2
NM_001243728.1	1447	UTR 3			NP_001230657.1
NM_001256418.1	1447	UTR 3			NP_001243347.1
NM_022745.4	1447	UTR 3			NP_073582.3

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