Product Details

SNP ID
rs41292217
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:20222082 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCTGCTTCCACACTGTTCCGTCT[A/C]CATTCAGAAAGCAGTAAAAATATAT
Phenotype
MIM: 604418
Polymorphism
A/C, Transversion 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 1712 UTR 3 NP_001103689.1
NM_001110220.2 1712 UTR 3 NP_001103690.1
NM_001110221.2 1712 UTR 3 NP_001103691.1
NM_006783.4 1712 UTR 3 NP_006774.2
XM_017020357.1 1712 UTR 3 XP_016875846.1
XM_017020358.1 1712 UTR 3 XP_016875847.1
XM_017020359.1 1712 UTR 3 XP_016875848.1
XM_017020360.1 1712 UTR 3 XP_016875849.1

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