Product Details

SNP ID
rs139275267
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:147758868 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTGCCTTCTCTGCCACCGGGTAC[C/T]CGTAAGAGCCAGAGCCCCGGACCTC
Phenotype
MIM: 121013
Polymorphism
C/T, Transition 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 2554 Missense Mutation GAG,GGG E124G NP_005257.2
NM_181703.3 2554 Missense Mutation GAG,GGG E124G NP_859054.1
XM_005272951.4 2554 Missense Mutation GAG,GGG E124G XP_005273008.1
XM_017001044.1 2554 Missense Mutation GAG,GGG E124G XP_016856533.1

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