Product Details

SNP ID

rs643788

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.11:119097048 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AGCTGATATCGAATGGAGAAGGTGA[C/T]GGCACTGCCCAGGATCTGCAAGGAG

Phenotype

MIM: 191350 MIM: 601772 MIM: 609806

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DPAGT1 PubMed Links

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	1815	Missense Mutation	ATC,GTC	I393V	NP_001373.2
XM_005271422.2	1815	Missense Mutation	ATC,GTC	I419V	XP_005271479.1
XM_011542648.1	1815	Missense Mutation	ATC,GTC	I312V	XP_011540950.1
XM_017017293.1	1815	Missense Mutation	ATC,GTC	I286V	XP_016872782.1
XM_017017294.1	1815	UTR 3			XP_016872783.1
XM_017017295.1	1815	Missense Mutation	ATC,GTC	I221V	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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