Product Details

SNP ID

rs140295425

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:92394149 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTTCGCAGACATCTCAGAGATC[A/G]AAGAAGAAATCGGGTAAATAGCTGC

Phenotype

MIM: 602546

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ST8SIA2 PubMed Links

Gene Details

Gene

ST8SIA2

Gene Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006011.3	240	Missense Mutation	AAA,GAA	K29E	NP_006002.1
XM_017022642.1	240	Intron			XP_016878131.1
XM_017022643.1	240	Missense Mutation	AAA,GAA	K29E	XP_016878132.1

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