Product Details

SNP ID
rs76826739
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:23846150 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCAGTGCAGAAAAATGGCATAA[A/C]CAGCCGATCCCTTTGAGGTATACCT
Phenotype
MIM: 612280
Polymorphism
A/C, 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_000147.4 852 Missense Mutation GGT,GTT G395V NP_000138.2
XM_005245821.2 852 Missense Mutation GGT,GTT G270V XP_005245878.1
XM_011541167.2 852 Missense Mutation GGT,GTT G184V XP_011539469.1
XM_017000905.1 852 Missense Mutation GGT,GTT G294V XP_016856394.1

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