Product Details

SNP ID

rs139508454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:54459892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGAGATGGGCCTCCCCTACCAGG[C/G]GCATGACTCCGGTGTGAATCTCCCC

Phenotype

MIM: 610928

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LOC100129098 PubMed Links

Gene Details

Gene

LOC100129098

Gene Name

translation initiation factor IF-2

There are no transcripts associated with this gene.

Gene

SOX17

Gene Name

SRY-box 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022454.3	1346	Missense Mutation	GCG,GGG	A381G	NP_071899.1

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