Product Details

SNP ID

rs193922915

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31859879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAATAGCCACTGGGGCCTGGCCAT[A/G]GCTGGACTGTCTCTTTCCGCCATGA

Phenotype

MIM: 608272 MIM: 606107

Polymorphism

A/G, 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	1244	Missense Mutation	CCA,CTA	P363L	NP_000425.1

Gene

SLC44A4

Gene Name

solute carrier family 44 member 4

There are no transcripts associated with this gene.

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