Product Details

SNP ID

rs201955819

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20142055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTTGCTGGCCCGACCTGGGTCTC[C/T]GAGGGGCAAGGGCGGCTGGTGCATC

Phenotype

MIM: 121015

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GJA3 PubMed Links

Gene Details

Gene

GJA3

Gene Name

gap junction protein alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021954.3	1313	Missense Mutation	AGA,GGA	R412G	NP_068773.2
XM_011535048.2	1313	Missense Mutation	AGA,GGA	R412G	XP_011533350.1

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