Product Details

SNP ID
rs144380244
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:5071999 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGTGGGCCGCAGCCCCCGTATGCA[A/G]TACCACGCGCTGTCGTTGGCCATGC
Phenotype
MIM: 605907
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ALG1 PubMed Links

Gene Details

Gene
ALG1
Gene Name
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019109.4 191 Silent Mutation CAA,CAG Q50Q NP_061982.3
XM_011522565.1 191 Intron XP_011520867.1
XM_017023457.1 191 Silent Mutation CAA,CAG Q50Q XP_016878946.1
XM_017023458.1 191 UTR 5 XP_016878947.1
Gene
C16orf89
Gene Name
chromosome 16 open reading frame 89
There are no transcripts associated with this gene.

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