Product Details

SNP ID
rs199968706
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:95474325 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAAGAAGAAGAGCAAAGGGCCTT[A/C]TGCAGGTAAAGAGAGTTTTATGTTT
Phenotype
MIM: 601870
Polymorphism
A/C, Transversion 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_001317182.1 280 Missense Mutation TAT,TCT Y49S NP_001304111.1
NM_001317183.1 280 Missense Mutation TAT,TCT Y49S NP_001304112.1
NM_006838.3 280 Missense Mutation TAT,TCT Y49S NP_006829.1
XM_005268583.3 280 Missense Mutation TAT,TCT Y49S XP_005268640.1

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