Product Details

SNP ID
rs121918453
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:112450394 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACCTGTATGGAGGGGAGAAATTT[G/T]CCACTTTGGCTGAGTTGGTCCAGTA
Phenotype
MIM: 176876
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PTPN11 PubMed Links

Gene Details

Gene
PTPN11
Gene Name
protein tyrosine phosphatase, non-receptor type 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002834.3 594 Missense Mutation NP_002825.3
XM_006719526.2 594 Intron XP_006719589.1
XM_011538613.2 594 Intron XP_011536915.1
XM_017019722.1 594 Intron XP_016875211.1

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