Product Details

SNP ID

rs138964997

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31865381 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGACACAGAAATTCTTCCCGTAG[A/G]TGGCGATCTGAGGGAGGTGGAAAGG

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)

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	1763	Missense Mutation	ACC,ATC	T523I	NP_001171515.1
NM_001178045.1	1763	Missense Mutation	ACC,ATC	T489I	NP_001171516.1
NM_025257.2	1763	Missense Mutation	ACC,ATC	T565I	NP_079533.2

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