Product Details

SNP ID
rs149845267
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:20222715 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGTTTAGCTTGGGAAACCTGTGA[C/T]TGCATTTTGACCACTATCTGAAATC
Phenotype
MIM: 604418
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GJB6 PubMed Links

Gene Details

Gene
GJB6
Gene Name
gap junction protein beta 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001110219.2 1079 Missense Mutation ATC,GTC I256V NP_001103689.1
NM_001110220.2 1079 Missense Mutation ATC,GTC I256V NP_001103690.1
NM_001110221.2 1079 Missense Mutation ATC,GTC I256V NP_001103691.1
NM_006783.4 1079 Missense Mutation ATC,GTC I256V NP_006774.2
XM_017020357.1 1079 Missense Mutation ATC,GTC I256V XP_016875846.1
XM_017020358.1 1079 Missense Mutation ATC,GTC I256V XP_016875847.1
XM_017020359.1 1079 Missense Mutation ATC,GTC I256V XP_016875848.1
XM_017020360.1 1079 Missense Mutation ATC,GTC I256V XP_016875849.1

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