Product Details

SNP ID
rs201266622
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44804685 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGCTACTGGCAGTGCTTTTGTTG[C/G]ACCCAGCTTTGGACCCCACTTTGGC
Phenotype
MIM: 608655
Polymorphism
C/G, 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 1401 Missense Mutation TCC,TGC S378C NP_001073852.1
NM_005497.3 1401 Missense Mutation TCC,TGC S378C NP_005488.2
XM_005256920.1 1401 Missense Mutation TCC,TGC S378C XP_005256977.1
XM_005256921.1 1401 Missense Mutation TCC,TGC S378C XP_005256978.1

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