Product Details

SNP ID

rs34498516

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:124613081 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCACTGCTTCACCATAAGCAGGAC[C/G]GGCCTGGCCAGGACAAAATGAAATC

Phenotype

MIM: 608422 MIM: 610614

Polymorphism

C/G, Transversion 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	283	Missense Mutation	CGG,GGG	R95G	NP_443191.1

Gene

TBRG1

Gene Name

transforming growth factor beta regulator 1

There are no transcripts associated with this gene.

View Full Product Details