Product Details

SNP ID

rs201931758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2717288 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGCTTGCCGTCGATGTTGAGGCT[C/T]ATGTTCCGGCGCGTCTCCAGCGTCA

Phenotype

MIM: 607862

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DIRAS1 PubMed Links

Gene Details

Gene

DIRAS1

Gene Name

DIRAS family GTPase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145173.3	842	Missense Mutation	ATA,ATG	I173M	NP_660156.1
XM_011527713.2	842	Missense Mutation	ATA,ATG	I207M	XP_011526015.1

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