Product Details

SNP ID
rs148947455
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:44851380 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTGACTAAATCTAGAAACAGAGA[C/T]GAACAGGGAATAGAAGGTCACCAGT
Phenotype
MIM: 603784
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PTTG1IP PubMed Links

Gene Details

Gene
PTTG1IP
Gene Name
pituitary tumor-transforming 1 interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286822.1 1031 Missense Mutation CAT,CGT H139R NP_001273751.1
NM_004339.3 1031 UTR 3 NP_004330.1

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