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SNP ID

rs201702369

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:124637156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGACTGGGTGGAGACGGTGTTC[A/C]TAGAAGCTGGAAGCCACTTGCATCG

Phenotype

MIM: 610079 MIM: 610614

Polymorphism

A/C, Transversion 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	1671	Missense Mutation			NP_001186851.1
NM_170601.4	1671	Missense Mutation			NP_733746.1
XM_017017930.1	1671	Missense Mutation			XP_016873419.1

Gene

TBRG1

Gene Name

transforming growth factor beta regulator 1

There are no transcripts associated with this gene.

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