Product Details

SNP ID
rs201084126
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:63446840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATGGCTTTAAGGAATTCATAGCT[C/G]TCAAGATGACGTGATGCTATATGAA
Phenotype
MIM: 604566 MIM: 605494
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ALG6 PubMed Links

Gene Details

Gene
ALG6
Gene Name
ALG6, alpha-1,3-glucosyltransferase
There are no transcripts associated with this gene.

Gene
ITGB3BP
Gene Name
integrin subunit beta 3 binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206739.1 654 Silent Mutation GAC,GAG D206E NP_001193668.1
NM_014288.4 654 Silent Mutation GAC,GAG D167E NP_055103.3
XM_006710514.3 654 Intron XP_006710577.3
XM_006710515.3 654 Intron XP_006710578.3
XM_017000853.1 654 Intron XP_016856342.1
XM_017000854.1 654 Intron XP_016856343.1
XM_017000855.1 654 Silent Mutation GAC,GAG D201E XP_016856344.1
XM_017000856.1 654 Intron XP_016856345.1
XM_017000857.1 654 Intron XP_016856346.1

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