Product Details

SNP ID
rs145542354
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:34784959 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGGCTGCACCAACGTCTGCTACG[A/G]CAACTACTTCCCCATCTCCAACATC
Phenotype
MIM: 121012 MIM: 603324
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GJA4 PubMed Links

Gene Details

Gene
GJA4
Gene Name
gap junction protein alpha 4
There are no transcripts associated with this gene.

Gene
GJB3
Gene Name
gap junction protein beta 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005752.1 812 Missense Mutation GAC,GGC D66G NP_001005752.1
NM_024009.2 812 Missense Mutation GAC,GGC D66G NP_076872.1

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