Product Details

SNP ID

rs190788667

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:119146779 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGCTTCCGAGCAGATGGACCGCA[C/G]AATGTCTGGCGAGGCTGAGCGAAGA

Phenotype

MIM: 608351

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

C3orf30 PubMed Links

Additional Information

For this assay, SNP(s) [rs10934483,rs9859242] 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

C3orf30

Gene Name

chromosome 3 open reading frame 30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152539.2	630	Missense Mutation	ACA,AGA	T197R	NP_689752.2

Gene

IGSF11

Gene Name

immunoglobulin superfamily member 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015887.1	630	Intron			NP_001015887.1
NM_152538.2	630	Intron			NP_689751.2
XM_006713517.1	630	Intron			XP_006713580.1
XM_011512462.2	630	Intron			XP_011510764.1
XM_011512463.1	630	Intron			XP_011510765.1
XM_011512464.2	630	Intron			XP_011510766.1
XM_011512465.1	630	Intron			XP_011510767.1
XM_011512466.2	630	Intron			XP_011510768.1
XM_011512467.2	630	Intron			XP_011510769.1
XM_011512468.1	630	Intron			XP_011510770.1
XM_011512469.1	630	Intron			XP_011510771.1
XM_011512470.1	630	Intron			XP_011510772.1
XM_011512471.2	630	Intron			XP_011510773.1
XM_011512472.1	630	Intron			XP_011510774.1
XM_011512474.2	630	Intron			XP_011510776.1
XM_017005789.1	630	Intron			XP_016861278.1
XM_017005790.1	630	Intron			XP_016861279.1

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