Product Details

SNP ID
rs181973913
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:13787322 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGTAATCCTTCAGGTTGGAAGTC[A/G]GATCGCAGACCGTGTATATGACATA
Phenotype
MIM: 612360
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ESF1 PubMed Links

Gene Details

Gene
ESF1
Gene Name
ESF1 nucleolar pre-rRNA processing protein homolog
There are no transcripts associated with this gene.

Gene
NDUFAF5
Gene Name
NADH:ubiquinone oxidoreductase complex assembly factor 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039375.2 276 Missense Mutation CAG,CGG Q78R NP_001034464.1
NM_024120.4 276 Missense Mutation CAG,CGG Q78R NP_077025.2
XM_006723620.3 276 Missense Mutation CAG,CGG Q78R XP_006723683.1
XM_006723622.2 276 UTR 5 XP_006723685.1
XM_006723623.2 276 UTR 5 XP_006723686.1
XM_006723624.2 276 UTR 5 XP_006723687.1
XM_011529342.2 276 Missense Mutation CAG,CGG Q78R XP_011527644.1
XM_011529344.2 276 Intron XP_011527646.1
XM_017028061.1 276 UTR 5 XP_016883550.1

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