Product Details

SNP ID

rs346049

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.19:43718973 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CTTCAGCCGCTATGACTTCTTCCTG[C/T]TGGTCTCCCCCCGCCGCTGCGGGGC

Phenotype

MIM: 613176

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

IRGC PubMed Links

Additional Information

For this assay, SNP(s) [rs11555891] are located under a primer 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

IRGC

Gene Name

immunity related GTPase cinema

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019612.3	596	Silent Mutation	CTG,TTG	L139L	NP_062558.1
XM_005259058.3	596	Silent Mutation	CTG,TTG	L176L	XP_005259115.1
XM_006723283.3	596	Silent Mutation	CTG,TTG	L139L	XP_006723346.1
XM_011527118.2	596	Silent Mutation	CTG,TTG	L139L	XP_011525420.1

Gene

SMG9

Gene Name

SMG9, nonsense mediated mRNA decay factor

There are no transcripts associated with this gene.

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