Product Details

SNP ID
rs183417618
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:95474322 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAAAGAAGAAGAAGAGCAAAGGGC[C/T]TTCTGCAGGTAAAGAGAGTTTTATG
Phenotype
MIM: 601870
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
METAP2 PubMed Links

Gene Details

Gene
METAP2
Gene Name
methionyl aminopeptidase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317182.1 277 Missense Mutation CCT,CTT P48L NP_001304111.1
NM_001317183.1 277 Missense Mutation CCT,CTT P48L NP_001304112.1
NM_006838.3 277 Missense Mutation CCT,CTT P48L NP_006829.1
XM_005268583.3 277 Missense Mutation CCT,CTT P48L XP_005268640.1

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