Product Details

SNP ID

rs111300482

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:51743760 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGAGGCCCAGCGCGAGCCCCTCA[A/G]CTCGGCTTTCAGCCGTAAGCTCAAC

Phenotype

MIM: 300418

Polymorphism

A/G, 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	376	Missense Mutation	AAC,AGC	N45S	NP_060564.2

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