Product Details

SNP ID

rs201394816

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:97854583 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATAGCCTCTAAAAATATTACCCA[C/T]GGGCAGCAGTAGTTCGATCTGCGCG

Phenotype

MIM: 108370

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ASNS PubMed Links

Additional Information

For this assay, SNP(s) [rs1049677] 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

ASNS

Gene Name

asparagine synthetase (glutamine-hydrolyzing)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178075.1	1111	Intron			NP_001171546.1
NM_001178076.1	1111	Intron			NP_001171547.1
NM_001178077.1	1111	Missense Mutation	CAT,CGT	H329R	NP_001171548.1
NM_001673.4	1111	Intron			NP_001664.3
NM_133436.3	1111	Missense Mutation	CAT,CGT	H412R	NP_597680.2
NM_183356.3	1111	Intron			NP_899199.2

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