Product Details

SNP ID

rs78275140

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:143495779 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGATGAATGGTTAGCTGTGGCAG[G/T]TCTACCATAATGCCATTTTGCTCCA

Phenotype

MIM: 136820 MIM: 603164

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FUCA2 PubMed Links

Gene Details

Gene

FUCA2

Gene Name

fucosidase, alpha-L- 2, plasma

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032020.4	1581	Missense Mutation	GAA,GAC	E444D	NP_114409.2

Gene

PEX3

Gene Name

peroxisomal biogenesis factor 3

There are no transcripts associated with this gene.

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