Product Details

SNP ID
rs5758381
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41526935 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGGGCAGAGGGTGCTCCCAGGAA[G/T]GGGGCGCCTTGAGCTTCACAGATGC
Phenotype
MIM: 100850
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ACO2 PubMed Links

Gene Details

Gene
ACO2
Gene Name
aconitase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098.2 3264 Intron NP_001089.1
Gene
POLR3H
Gene Name
RNA polymerase III subunit H
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018050.3 3264 UTR 3 NP_001018060.1
NM_001018052.3 3264 UTR 3 NP_001018062.1
NM_001282884.1 3264 UTR 3 NP_001269813.1
NM_001282885.1 3264 UTR 3 NP_001269814.1
NM_138338.4 3264 UTR 3 NP_612211.1

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