Product Details

SNP ID

rs201041634

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:236167568 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCTCCGCCTTGTCGAAGTTACCG[A/C]CGCCGGGCAGCGGCTGCGGCGCGAA

Phenotype

MIM: 601135

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GBX2 PubMed Links

Gene Details

Gene

GBX2

Gene Name

gastrulation brain homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301687.1	442	Missense Mutation	GGC,GTC	G135V	NP_001288616.1
NM_001485.3	442	Missense Mutation	GGC,GTC	G135V	NP_001476.2

Gene

LOC105373944

Gene Name

translation initiation factor IF-2-like

There are no transcripts associated with this gene.

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