Product Details

SNP ID

rs139820526

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44851582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGGACTGATGTGCTGGAGCGCTT[C/T]AGTTGTTTTCAAATCTAGCATACGG

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	829	Missense Mutation	AAA,GAA	K72E	NP_001273751.1
NM_004339.3	829	Silent Mutation	TAA,TGA	*181*	NP_004330.1

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