Product Details

SNP ID

rs121918652

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:181712749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGATAAGTACACGCTGCCCGGCG[C/G]GCTGCTGGCCCCCGGCGGCAATAGC

Phenotype

MIM: 184429 MIM: 616338

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SOX2 PubMed Links

Gene Details

Gene

SOX2

Gene Name

SRY-box 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003106.3	826	Missense Mutation	GCG,GGG	A130G	NP_003097.1

Gene

SOX2-OT

Gene Name

SOX2 overlapping transcript

There are no transcripts associated with this gene.

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