Product Details

SNP ID
rs200248489
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22025741 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAAGAAGATGCAGCCGGTCACCA[C/T]TGCCTCACTCCAGGCCTCAGTCCTC
Phenotype
MIM: 608073
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NPM2 PubMed Links

Gene Details

Gene
NPM2
Gene Name
nucleophosmin/nucleoplasmin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286680.1 893 Missense Mutation ACT,ATT T80I NP_001273609.1
NM_001286681.1 893 Missense Mutation ACT,ATT T80I NP_001273610.1
NM_182795.1 893 Missense Mutation ACT,ATT T80I NP_877724.1
XM_011544360.2 893 Missense Mutation ACT,ATT T155I XP_011542662.1
XM_011544362.2 893 Missense Mutation ACT,ATT T80I XP_011542664.1
XM_011544363.2 893 Missense Mutation ACT,ATT T80I XP_011542665.1
XM_011544364.2 893 Missense Mutation ACT,ATT T22I XP_011542666.1
XM_017012947.1 893 Intron XP_016868436.1
XM_017012948.1 893 Missense Mutation ACT,ATT T80I XP_016868437.1
XM_017012949.1 893 Missense Mutation ACT,ATT T80I XP_016868438.1
XM_017012950.1 893 Intron XP_016868439.1

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