Product Details

SNP ID

rs147212550

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55651391 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCAGCAGCCTCCTCCCTCAGCG[A/G]AGCGTCCGAAGAAGGCAGCGCCAGT

Phenotype

MIM: 613478 MIM: 191318

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CCDC106 PubMed Links

Additional Information

For this assay, SNP(s) [rs2287791] 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

CCDC106

Gene Name

coiled-coil domain containing 106

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013301.2	776	Missense Mutation	GAA,GGA	E141G	NP_037433.2
XM_005258827.2	776	Missense Mutation	GAA,GGA	E141G	XP_005258884.1
XM_005258828.2	776	Missense Mutation	GAA,GGA	E141G	XP_005258885.1

Gene

U2AF2

Gene Name

U2 small nuclear RNA auxiliary factor 2

There are no transcripts associated with this gene.

Gene

ZNF580

Gene Name

zinc finger protein 580

There are no transcripts associated with this gene.

Gene

ZNF581

Gene Name

zinc finger protein 581

There are no transcripts associated with this gene.

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