Product Details

SNP ID
rs143819253
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:67399258 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAATGATCCAGATGGACAGAATGAT[A/G]TCTTTTGGGATCAGAATTCTCCATT
Phenotype
MIM: 613196
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ETAA1 PubMed Links

Gene Details

Gene
ETAA1
Gene Name
Ewing tumor associated antigen 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019002.3 445 Missense Mutation ATC,GTC I105V NP_061875.2
XM_017004376.1 445 Missense Mutation ATC,GTC I105V XP_016859865.1
XM_017004377.1 445 Missense Mutation ATC,GTC I105V XP_016859866.1

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