Product Details

SNP ID

rs192756063

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:124626970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACCCCGTGGGCTATTGCAGTACT[C/T]GAATATATGCCAGCATGAAGTGCCC

Phenotype

MIM: 608422 MIM: 610079 MIM: 610614

Polymorphism

C/T, Transition 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

SIAE

Gene Name

sialic acid acetylesterase

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	702	Nonsense Mutation	CGA,TGA	R220*	NP_116200.2
XM_005271709.3	702	Nonsense Mutation	CGA,TGA	R73*	XP_005271766.1
XM_017018442.1	702	Nonsense Mutation	CGA,TGA	R69*	XP_016873931.1

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