Product Details

SNP ID

rs200858288

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:124625710 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCCTCCAGCTTCAGGCTCTAAC[G/T]GAAGGGGAAGTACAGGCTGCAGCTC

Phenotype

MIM: 608422 MIM: 610614

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PANX3 PubMed Links

Gene Details

Gene

PANX3

Gene Name

pannexin 3

There are no transcripts associated with this gene.

Gene

TBRG1

Gene Name

transforming growth factor beta regulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032811.2	499	Silent Mutation	ACG,ACT	T87T	NP_116200.2
XM_005271709.3	499	Intron			XP_005271766.1
XM_017018442.1	499	UTR 5			XP_016873931.1

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