Product Details

SNP ID

rs112362032

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:160422824 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAGGCTTTGGGAACTGTCAACAG[A/T]GCTACAGAAAAGTCTGTAAAGACCA

Phenotype

MIM: 604147 MIM: 605974

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

PTTG1 PubMed Links

Gene Details

Gene

PTTG1

Gene Name

pituitary tumor-transforming 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282382.1	610	Missense Mutation	AGA,AGT	R69S	NP_001269311.1
NM_001282383.1	610	Missense Mutation	AGA,AGT	R69S	NP_001269312.1
NM_004219.3	610	Missense Mutation	AGA,AGT	R69S	NP_004210.1

Gene

SLU7

Gene Name

SLU7 homolog, splicing factor

There are no transcripts associated with this gene.

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