Product Details

SNP ID

rs200855729

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:124637051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTACTGGGGTGGTATAGGGGACAC[C/T]GCTTATATTCACAAGGCCACGTGGT

Phenotype

MIM: 610079 MIM: 610614

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SIAE PubMed Links

Gene Details

Gene

SIAE

Gene Name

sialic acid acetylesterase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199922.1	1776	Missense Mutation	CAG,CGG	Q456R	NP_001186851.1
NM_170601.4	1776	Missense Mutation	CAG,CGG	Q491R	NP_733746.1
XM_017017930.1	1776	Missense Mutation	CAG,CGG	Q300R	XP_016873419.1

Gene

TBRG1

Gene Name

transforming growth factor beta regulator 1

There are no transcripts associated with this gene.

View Full Product Details