Product Details

SNP ID

rs3180499

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:54459842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGGTGGACCGCACGGAATTTGA[A/C]CAGTATCTGCACTTCGTGTGCAAGC

Phenotype

MIM: 610928

Polymorphism

A/C, 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	1296	Missense Mutation	GAA,GAC	E364D	NP_071899.1

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