Product Details

SNP ID

rs138465662

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44851558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCGTGCACCTCACAGGAAGCGT[C/G]GGGACTGATGTGCTGGAGCGCTTTA

Phenotype

MIM: 603784

Polymorphism

C/G, Transversion 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	853	Missense Mutation	CAC,GAC	H80D	NP_001273751.1
NM_004339.3	853	UTR 3			NP_004330.1

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