Product Details

SNP ID

rs142427783

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:51744030 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGTTACCATGGAACTTTCAGAAC[C/T]TGTTGTAGAAAATGGAGAGGTGGAA

Phenotype

MIM: 300418

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GSPT2 PubMed Links

Gene Details

Gene

GSPT2

Gene Name

G1 to S phase transition 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018094.4	646	Missense Mutation	CCT,CTT	P135L	NP_060564.2

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