Product Details

SNP ID

rs201689147

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31865873 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCAGGCCCCTGCCCCATCCTTAC[C/T]GGAGTGTGCGGATGAAGGCAGAGAT

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)

There are no transcripts associated with this gene.

Gene

SLC44A4

Gene Name

solute carrier family 44 member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178044.1	1556	Missense Mutation	CAT,CGT	H454R	NP_001171515.1
NM_001178045.1	1556	Missense Mutation	CAT,CGT	H420R	NP_001171516.1
NM_025257.2	1556	Missense Mutation	CAT,CGT	H496R	NP_079533.2

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