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AGCTAAATATGCAGCAATTGCTATC[C/T]AAAACCTTGGATCTTTCAGCAGTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 611923 MIM: 608962 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GJA9 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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GJA9 - gap junction protein alpha 9 | ||||||
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There are no transcripts associated with this gene. |
GJA9-MYCBP - GJA9-MYCBP readthrough | ||||||
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There are no transcripts associated with this gene. |
RHBDL2 - rhomboid like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304746.1 | 1080 | Nonsense Mutation | TAG,TGG | *,W 359 | NP_001291675.1 | |
NM_017821.4 | 1080 | Nonsense Mutation | TAG,TGG | *,W 279 | NP_060291.2 |