Product Details

SNP ID

rs11554043

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:68047039 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACTCTTGCTGTCGGTGATGTGCA[T/G]GGAAAGCACACCGTGGCTGCAGCCC

Phenotype

MIM: 605193 MIM: 615406

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

DIRAS3 PubMed Links

Gene Details

Gene

DIRAS3

Gene Name

DIRAS family GTPase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004675.3	1539	Missense Mutation	ATG,CTG	M87L	NP_004666.1
XM_017002773.1	1539	Missense Mutation	ATG,CTG	M87L	XP_016858262.1

Gene

GNG12-AS1

Gene Name

GNG12 antisense RNA 1

There are no transcripts associated with this gene.

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