Product Details

SNP ID

rs56353542

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:79077859 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGACATGATGGGCGGGTACCTGGA[C/T]GACAGGTGAGGACCTGGCCTTACAT

Phenotype

MIM: 611898

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ENGASE PubMed Links

Additional Information

For this assay, SNP(s) [rs117502073] 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

ENGASE

Gene Name

endo-beta-N-acetylglucosaminidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042573.2	261	Silent Mutation	GAC,GAT	D137D	NP_001036038.1
XM_006722017.3	261	Missense Mutation	ACG,ATG	T1M	XP_006722080.1
XM_006722018.3	261	Intron			XP_006722081.1
XM_006722019.3	261	Silent Mutation	GAC,GAT	D137D	XP_006722082.1
XM_017024961.1	261	Silent Mutation	GAC,GAT	D7D	XP_016880450.1

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