Product Details

SNP ID

rs144428416

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:49711422 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCCCGGGTTTGAGGGGCAGTTAC[A/G]GAAGATGAAGCCCATGCCGGGGAAG

Phenotype

MIM: 610790

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

FAM117A PubMed Links

Additional Information

For this assay, SNP(s) [rs34759387] 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

FAM117A

Gene Name

family with sequence similarity 117 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030802.3	2022	Missense Mutation	CGT,TGT	R399C	NP_110429.1
XM_017025182.1	2022	Missense Mutation	CGT,TGT	R447C	XP_016880671.1

Gene

SLC35B1

Gene Name

solute carrier family 35 member B1

There are no transcripts associated with this gene.

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