Product Details

SNP ID

rs139301823

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31859897 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCATAGCTGGACTGTCTCTTTC[C/T]GCCATGAGGTACCATTGCTGAAGCT

Phenotype

MIM: 608272 MIM: 606107

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NEU1 PubMed Links

Gene Details

Gene

NEU1

Gene Name

neuraminidase 1 (lysosomal sialidase)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000434.3	1226	Missense Mutation	CAG,CGG	Q357R	NP_000425.1

Gene

SLC44A4

Gene Name

solute carrier family 44 member 4

There are no transcripts associated with this gene.

View Full Product Details