Product Details

SNP ID
rs139509593
Assay Type
Functionally Tested
NCBI dbSNP Submissions
2
Location
Chr.1:147758243 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCACTATGATAGCCATGGGGAAG[C/G]CGGTGACCTGGTGAGACTCCATTGG
Phenotype
MIM: 121013
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
GJA5 PubMed Links

Gene Details

Gene
GJA5
Gene Name
gap junction protein alpha 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005266.6 3179 Silent Mutation CGC,CGG R332R NP_005257.2
NM_181703.3 3179 Silent Mutation CGC,CGG R332R NP_859054.1
XM_005272951.4 3179 Silent Mutation CGC,CGG R332R XP_005273008.1
XM_017001044.1 3179 Silent Mutation CGC,CGG R332R XP_016856533.1

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