Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTTACCTTTCCTAATTCCAATCAA[A/G]TTAGAAAGTGAACAAAAAGAATGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605266 | ||||||||||||||||||||
Literature Links: |
JPH1 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 |
JPH1 - junctophilin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317830.1 | 2056 | Missense Mutation | ACT,ATT | T,I 661 | NP_001304759.1 | |
NM_020647.3 | 2056 | Missense Mutation | ACT,ATT | T,I 661 | NP_065698.1 | |
XM_005251274.3 | 2056 | Missense Mutation | ACT,ATT | T,I 661 | XP_005251331.1 | |
XM_005251275.4 | 2056 | Missense Mutation | ACT,ATT | T,I 661 | XP_005251332.1 |