Product Details

SNP ID

rs28712239

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2716781 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGATGTGCATTTTCAACTCCCCC[C/T]TCCCCCAGAAGGTCACAGTGATCAA

Phenotype

MIM: 607862

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DIRAS1 PubMed Links

Additional Information

For this assay, SNP(s) [rs77288476] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1349	UTR 3			NP_660156.1
XM_011527713.2	1349	UTR 3			XP_011526015.1

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