Product Details

SNP ID

rs149168482

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:23846156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCAGAAAAATGGCATAAACAGCC[A/G]ATCCCTTTGAGGTATACCTGGGAAA

Phenotype

MIM: 612280

Polymorphism

A/G, 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	846	Missense Mutation	TCG,TTG	S393L	NP_000138.2
XM_005245821.2	846	Missense Mutation	TCG,TTG	S268L	XP_005245878.1
XM_011541167.2	846	Missense Mutation	TCG,TTG	S182L	XP_011539469.1
XM_017000905.1	846	Missense Mutation	TCG,TTG	S292L	XP_016856394.1

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