Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGAAATGGGCGACTGGAGTTTCCTG[A/G]GGAACATCTTGGAGGAGGTGAATGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 600897 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GJA8 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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GJA8 - gap junction protein alpha 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005267.4 | 822 | Missense Mutation | AGG,GGG | R,G 8 | NP_005258.2 | |
XM_011509416.1 | 822 | Missense Mutation | AGG,GGG | R,G 8 | XP_011507718.1 | |
XM_011509417.1 | 822 | Missense Mutation | AGG,GGG | R,G 8 | XP_011507719.1 |