Product Details

SNP ID
rs139978887
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:40514945 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAGAACTTCATGATCTTGTGACTG[C/T]CCCAGTCACCACTAAAGAAGATGCT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EXO5 PubMed Links

Gene Details

Gene
EXO5
Gene Name
exonuclease 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022774.1 833 Missense Mutation GCC,GTC A134V NP_073611.1
XM_005271125.3 833 Missense Mutation GCC,GTC A134V XP_005271182.1
XM_005271126.3 833 Missense Mutation GCC,GTC A134V XP_005271183.1
XM_005271128.3 833 Missense Mutation GCC,GTC A134V XP_005271185.1
XM_011541970.2 833 Missense Mutation GCC,GTC A134V XP_011540272.1
XM_017002099.1 833 Missense Mutation GCC,GTC A134V XP_016857588.1
XM_017002100.1 833 Missense Mutation GCC,GTC A134V XP_016857589.1
XM_017002101.1 833 Missense Mutation GCC,GTC A134V XP_016857590.1
XM_017002102.1 833 Missense Mutation GCC,GTC A134V XP_016857591.1
XM_017002103.1 833 Missense Mutation GCC,GTC A134V XP_016857592.1
XM_017002104.1 833 Missense Mutation GCC,GTC A134V XP_016857593.1

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