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AGATGCTGCTGGTGTACGTCCACCA[C/T]AGCGACCCCTCTATCCGAACCTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604418 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GJB6 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GJB6 - gap junction protein beta 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001110219.2 | 709 | Silent Mutation | CTA,CTG | L,L 132 | NP_001103689.1 | |
NM_001110220.2 | 709 | Silent Mutation | CTA,CTG | L,L 132 | NP_001103690.1 | |
NM_001110221.2 | 709 | Silent Mutation | CTA,CTG | L,L 132 | NP_001103691.1 | |
NM_006783.4 | 709 | Silent Mutation | CTA,CTG | L,L 132 | NP_006774.2 | |
XM_017020357.1 | 709 | Silent Mutation | CTA,CTG | L,L 132 | XP_016875846.1 | |
XM_017020358.1 | 709 | Silent Mutation | CTA,CTG | L,L 132 | XP_016875847.1 | |
XM_017020359.1 | 709 | Silent Mutation | CTA,CTG | L,L 132 | XP_016875848.1 | |
XM_017020360.1 | 709 | Silent Mutation | CTA,CTG | L,L 132 | XP_016875849.1 |