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GTGGTGTTCGTCTTCCGGGTGCTGG[C/T]ATACGTGGTGGCTGCAGAGCGCGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 121012 MIM: 603324 | ||||||||||||||||||||
Literature Links: |
GJA4 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
GJA4 - gap junction protein alpha 4 | ||||||
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There are no transcripts associated with this gene. |
GJB3 - gap junction protein beta 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005752.1 | 719 | Missense Mutation | GCA,GTA | A,V 35 | NP_001005752.1 | |
NM_024009.2 | 719 | Missense Mutation | GCA,GTA | A,V 35 | NP_076872.1 |