Product Details

SNP ID
rs61757465
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41526362 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTCCAACAACCTGCTCATTGGTG[C/T]CATCAACATTGAAAACGGCAAGGCC
Phenotype
MIM: 100850
Polymorphism
C/T, Transition 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 1884 Missense Mutation GCC,GTC A621V NP_001089.1
XM_017028812.1 1884 Missense Mutation GCC,GTC A588V XP_016884301.1
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 1884 UTR 3 NP_001018060.1
NM_001018052.3 1884 UTR 3 NP_001018062.1
NM_001282884.1 1884 UTR 3 NP_001269813.1
NM_001282885.1 1884 UTR 3 NP_001269814.1
NM_138338.4 1884 UTR 3 NP_612211.1
XM_011529993.1 1884 Intron XP_011528295.1
XM_017028641.1 1884 Intron XP_016884130.1

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