Product Details

SNP ID

rs142991261

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:49702995 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCAGGGGACCAAAATACACAACC[A/G]TCATAAAGATGAAGCTCTAGAGAAA

Phenotype

MIM: 610790

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

FAM117A PubMed Links

Additional Information

For this assay, SNP(s) [rs2304917] 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

There are no transcripts associated with this gene.

Gene

SLC35B1

Gene Name

solute carrier family 35 member B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278784.1	782	Missense Mutation	ACG,ATG	T193M	NP_001265713.1
NM_005827.2	782	Missense Mutation	ACG,ATG	T297M	NP_005818.2
XM_005256929.3	782	Missense Mutation	ACG,ATG	T193M	XP_005256986.1
XM_006721632.3	782	Missense Mutation	ACG,ATG	T331M	XP_006721695.1
XM_011524179.2	782	Missense Mutation	ACG,ATG	T254M	XP_011522481.1
XM_011524180.2	782	Missense Mutation	ACG,ATG	T193M	XP_011522482.1

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