Product Details

SNP ID

rs144530684

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:181713194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGGGACATGATCAGCATGTATCT[C/T]CCCGGCGCCGAGGTGCCGGAACCCG

Phenotype

MIM: 184429 MIM: 616338

Polymorphism

C/T, Transition 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	1271	Silent Mutation	CTC,CTT	L278L	NP_003097.1

Gene

SOX2-OT

Gene Name

SOX2 overlapping transcript

There are no transcripts associated with this gene.

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