Product Details

SNP ID

rs181109100

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:124611705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTGGGCTCCCCCTTGTTGCTGA[A/T]GTCCCTGGCATTCGCCCAGGAGTTC

Phenotype

MIM: 608422

Polymorphism

A/T, 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	149	Missense Mutation	AAG,ATG	K50M	NP_443191.1

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