Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAACACGTACCAGGGCACCTGGGC[G/T]CAGGGCAAGCGCCACGGCATCGGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605268 | ||||||||||||||||||||
Literature Links: |
JPH3 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 |
JPH3 - junctophilin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271604.2 | 484 | Silent Mutation | GCG,GCT | A,A 66 | NP_001258533.1 | |
NM_001271605.1 | 484 | Silent Mutation | GCG,GCT | A,A 66 | NP_001258534.1 | |
NM_020655.3 | 484 | Silent Mutation | GCG,GCT | A,A 66 | NP_065706.2 | |
XM_017023483.1 | 484 | Silent Mutation | GCG,GCT | A,A 66 | XP_016878972.1 | |
XM_017023484.1 | 484 | Silent Mutation | GCG,GCT | A,A 66 | XP_016878973.1 |