Product Details

SNP ID

rs200944276

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:184235265 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCGGACACCTGGGGACAGCTACTC[A/G]GGAGCTACTCTTCCTTTTGGATAGC

Phenotype

MIM: 608750 MIM: 611620

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ALG3 PubMed Links

Gene Details

Gene

ALG3

Gene Name

ALG3, alpha-1,3- mannosyltransferase

There are no transcripts associated with this gene.

Gene

MIR1224

Gene Name

microRNA 1224

There are no transcripts associated with this gene.

Gene

VWA5B2

Gene Name

von Willebrand factor A domain containing 5B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320373.1	1340	Missense Mutation	CAG,CGG	Q134R	NP_001307302.1
NM_138345.2	1340	Missense Mutation	CAG,CGG	Q353R	NP_612354.1
XM_011513288.2	1340	Missense Mutation	CAG,CGG	Q357R	XP_011511590.1
XM_011513289.2	1340	Missense Mutation	CAG,CGG	Q357R	XP_011511591.1
XM_011513290.2	1340	Missense Mutation	CAG,CGG	Q357R	XP_011511592.1
XM_011513291.2	1340	Missense Mutation	CAG,CGG	Q357R	XP_011511593.1
XM_011513292.2	1340	Missense Mutation	CAG,CGG	Q353R	XP_011511594.1

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