Product Details

SNP ID

rs1126689

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:23845459 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTGTAGATAATTTCCAAATATTA[C/G]AATTGATGAACTCAGAGTTCAACTG

Phenotype

MIM: 612280

Polymorphism

C/G, 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	1325	UTR 3			NP_000138.2
XM_005245821.2	1325	UTR 3			XP_005245878.1
XM_011541167.2	1325	UTR 3			XP_011539469.1
XM_017000905.1	1325	UTR 3			XP_016856394.1

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