Product Details

SNP ID

hCV997355

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:119088275 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGGAAGAAAACAGCCCAAAGAT[A/G]AGAGTGATTCGCGTGGGTACCCGCA

Phenotype

MIM: 191350 MIM: 601772 MIM: 609806 MIM: 608549

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

DPAGT1 PubMed Links

Additional Information

For this assay, SNP(s) [rs149609868] 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

There are no transcripts associated with this gene.

Gene

H2AFX

Gene Name

H2A histone family member X

There are no transcripts associated with this gene.

Gene

HMBS

Gene Name

hydroxymethylbilane synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000190.3	302	Missense Mutation	ATA,ATG	I18M	NP_000181.2
NM_001024382.1	302	Missense Mutation	ATA,ATG	I1M	NP_001019553.1
NM_001258208.1	302	Missense Mutation	ATA,ATG	I18M	NP_001245137.1
NM_001258209.1	302	Missense Mutation	ATA,ATG	I1M	NP_001245138.1

Gene

VPS11

Gene Name

VPS11, CORVET/HOPS core subunit

There are no transcripts associated with this gene.

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