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SNP ID

rs200803275

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:124613022 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCTCCCAGTAACTTCAGCATCC[A/G]GCAGGCAGCCTACGTGGACAGCTCC

Phenotype

MIM: 608422 MIM: 610614

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PANX3 PubMed Links

Gene Details

Gene

PANX3

Gene Name

pannexin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052959.2	224	Missense Mutation	CAG,CGG	Q75R	NP_443191.1

Gene

TBRG1

Gene Name

transforming growth factor beta regulator 1

There are no transcripts associated with this gene.

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