Product Details

SNP ID
rs200678715
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:23854403 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTGTAACATCAGACAATGCCATG[G/T]CACGACGATAGCCCCAGGAAAACTT
Phenotype
MIM: 612280
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FUCA1 PubMed Links

Gene Details

Gene
FUCA1
Gene Name
fucosidase, alpha-L- 1, tissue
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000147.4 594 Missense Mutation GAC,GCC D309A NP_000138.2
XM_005245821.2 594 Missense Mutation GAC,GCC D184A XP_005245878.1
XM_011541167.2 594 Missense Mutation GAC,GCC D98A XP_011539469.1
XM_017000905.1 594 Missense Mutation GAC,GCC D208A XP_016856394.1

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