Product Details

SNP ID
rs45600543
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:35455764 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACCCAGGAAACCACTGTTGCTGC[G/T]ATTGCCCCGGATATGCCAGAGGAAC
Phenotype
MIM: 613976
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FANCE PubMed Links

Gene Details

Gene
FANCE
Gene Name
Fanconi anemia complementation group E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021922.2 473 Missense Mutation CGA,CTA R89L NP_068741.1
XM_005248885.2 473 Missense Mutation CGA,CTA R89L XP_005248942.1
XM_005248886.2 473 Missense Mutation CGA,CTA R89L XP_005248943.1
XM_005248887.2 473 Missense Mutation CGA,CTA R89L XP_005248944.1
XM_005248888.3 473 Missense Mutation CGA,CTA R89L XP_005248945.1
XM_011514343.2 473 UTR 5 XP_011512645.1

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