Product Details

SNP ID
rs116840815
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:71223750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTACACCTTGCTCAGTGGCGTGAAC[C/T]GGCATTCTACTGCCATTGGCCGAGT
Phenotype
MIM: 304040
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GJB1 PubMed Links

Gene Details

Gene
GJB1
Gene Name
gap junction protein beta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000166.5 189 Missense Mutation CGG,TGG R15W NP_000157.1
NM_001097642.2 189 Missense Mutation CGG,TGG R15W NP_001091111.1
XM_011530907.2 189 Missense Mutation CGG,TGG R15W XP_011529209.1
XM_017029408.1 189 Missense Mutation CGG,TGG R15W XP_016884897.1

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