Product Details

SNP ID

rs200455799

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:222571938 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGGTCAGCTCAAATTTGGTGATA[A/G]CGTCAGGATGAAGGACCCCAAGCTT

Phenotype

MIM: 609690 MIM: 612827

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

FARSB PubMed Links

Additional Information

For this assay, SNP(s) [rs7185] 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

FARSB

Gene Name

phenylalanyl-tRNA synthetase beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005687.4	1985	Missense Mutation	GCT,GTT	A568V	NP_005678.3
XM_006712169.2	1985	Missense Mutation	GCT,GTT	A469V	XP_006712232.1
XM_011510466.2	1985	Missense Mutation	GCT,GTT	A469V	XP_011508768.1
XM_017003110.1	1985	Missense Mutation	GCT,GTT	A469V	XP_016858599.1

Gene

SGPP2

Gene Name

sphingosine-1-phosphate phosphatase 2

There are no transcripts associated with this gene.

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