Product Details

SNP ID

rs968566

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20142394 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCGCGCCTCGGTCAGGGCTAGCA[G/T]TTTGAAGTCCGCGGCTGGTGGCGGG

Phenotype

MIM: 121015

Polymorphism

G/T, Transversion 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	974	Missense Mutation	ATG,CTG	M299L	NP_068773.2
XM_011535048.2	974	Missense Mutation	ATG,CTG	M299L	XP_011533350.1

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