Product Details

SNP ID
rs1065390
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44802083 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTTAAAAGTGTGTGCATGTGGGG[A/T]GGTGACAGAATATCTTTATATGTAC
Phenotype
MIM: 608655
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
GJC1 PubMed Links

Gene Details

Gene
GJC1
Gene Name
gap junction protein gamma 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080383.1 4003 UTR 3 NP_001073852.1
NM_005497.3 4003 UTR 3 NP_005488.2
XM_005256920.1 4003 UTR 3 XP_005256977.1
XM_005256921.1 4003 UTR 3 XP_005256978.1

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