Product Details

SNP ID

rs12948599

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:735633 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGAAAGCACCTGAGACCATAGA[G/T]GGGCATTGGAATAAGTATGGCATCT

Phenotype

MIM: 611627 MIM: 606969

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

FAM57A PubMed Links

Additional Information

For this assay, SNP(s) [rs115714847] 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

FAM57A

Gene Name

family with sequence similarity 57 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318006.1		Intron			NP_001304935.1
NM_001318007.1		Intron			NP_001304936.1
NM_001318008.1		Intron			NP_001304937.1
NM_024792.2		Intron			NP_079068.1

Gene

GEMIN4

Gene Name

gem nuclear organelle associated protein 4

There are no transcripts associated with this gene.

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