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CTCGTGGTCATGCACGTGGCCTACC[A/G]GGAGGTTCAGGAGAAGAGGCACCGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 submissions
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Phenotype: |
MIM: 605425 MIM: 604493 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GJB4 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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GJB4 - gap junction protein beta 4 | ||||||
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There are no transcripts associated with this gene. |
GJB5 - gap junction protein beta 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005268.3 | 733 | Missense Mutation | CAG,CGG | Q,R 98 | NP_005259.1 | |
XM_005270751.3 | 733 | Missense Mutation | CAG,CGG | Q,R 98 | XP_005270808.1 |