Product Details

SNP ID

rs140366642

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:119097027 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATCATAGAAGAGTCGAACGAGCT[A/G]ATATCGAATGGAGAAGGTGATGGCA

Phenotype

MIM: 191350 MIM: 601772 MIM: 609806

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

DPAGT1 PubMed Links

Additional Information

For this assay, SNP(s) [rs643788] 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

DPAGT1

Gene Name

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001382.3	1836	Nonsense Mutation	CAG,TAG	Q400*	NP_001373.2
XM_005271422.2	1836	Nonsense Mutation	CAG,TAG	Q426*	XP_005271479.1
XM_011542648.1	1836	Nonsense Mutation	CAG,TAG	Q319*	XP_011540950.1
XM_017017293.1	1836	Nonsense Mutation	CAG,TAG	Q293*	XP_016872782.1
XM_017017294.1	1836	UTR 3			XP_016872783.1
XM_017017295.1	1836	Nonsense Mutation	CAG,TAG	Q228*	XP_016872784.1

Gene

H2AFX

Gene Name

H2A histone family member X

There are no transcripts associated with this gene.

Gene

HMBS

Gene Name

hydroxymethylbilane synthase

There are no transcripts associated with this gene.

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