Product Details

SNP ID
rs140932886
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:23854393 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCAGATTCTTCTGTAACATCAGA[C/T]AATGCCATGTCACGACGATAGCCCC
Phenotype
MIM: 612280
Polymorphism
C/T, Transition 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_000147.4 604 Silent Mutation TTA,TTG L312L NP_000138.2
XM_005245821.2 604 Silent Mutation TTA,TTG L187L XP_005245878.1
XM_011541167.2 604 Silent Mutation TTA,TTG L101L XP_011539469.1
XM_017000905.1 604 Silent Mutation TTA,TTG L211L XP_016856394.1

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