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ATAGTAATCTTCAAATTCACCATAT[A/G]ACACTTCATCAGACTTGCTGCAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607724 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CAPS2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
CAPS2 - calcyphosine 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286547.1 | 1798 | Intron | NP_001273476.1 | |||
NM_001286548.1 | 1798 | Missense Mutation | TCA,TTA | S,L 351 | NP_001273477.1 | |
NM_001286549.1 | 1798 | Missense Mutation | TCA,TTA | S,L 173 | NP_001273478.1 | |
NM_032606.3 | 1798 | Intron | NP_115995.2 | |||
XM_005269192.1 | 1798 | Missense Mutation | TCA,TTA | S,L 477 | XP_005269249.1 | |
XM_005269194.3 | 1798 | Intron | XP_005269251.1 | |||
XM_006719648.2 | 1798 | Missense Mutation | TCA,TTA | S,L 583 | XP_006719711.2 | |
XM_006719649.2 | 1798 | Missense Mutation | TCA,TTA | S,L 551 | XP_006719712.2 | |
XM_011538878.1 | 1798 | Missense Mutation | TCA,TTA | S,L 571 | XP_011537180.1 | |
XM_011538886.2 | 1798 | Missense Mutation | TCA,TTA | S,L 545 | XP_011537188.1 | |
XM_011538887.2 | 1798 | Missense Mutation | TCA,TTA | S,L 513 | XP_011537189.1 | |
XM_011538888.1 | 1798 | Missense Mutation | TCA,TTA | S,L 478 | XP_011537190.1 | |
XM_011538889.2 | 1798 | Missense Mutation | TCA,TTA | S,L 571 | XP_011537191.1 | |
XM_011538890.1 | 1798 | Intron | XP_011537192.1 | |||
XM_011538892.1 | 1798 | Missense Mutation | TCA,TTA | S,L 351 | XP_011537194.1 | |
XM_017020034.1 | 1798 | Missense Mutation | TCA,TTA | S,L 539 | XP_016875523.1 | |
XM_017020035.1 | 1798 | Missense Mutation | TCA,TTA | S,L 446 | XP_016875524.1 | |
XM_017020036.1 | 1798 | Missense Mutation | TCA,TTA | S,L 351 | XP_016875525.1 | |
XM_017020037.1 | 1798 | Missense Mutation | TCA,TTA | S,L 351 | XP_016875526.1 | |
XM_017020038.1 | 1798 | Missense Mutation | TCA,TTA | S,L 351 | XP_016875527.1 | |
XM_017020039.1 | 1798 | Missense Mutation | TCA,TTA | S,L 319 | XP_016875528.1 | |
XM_017020040.1 | 1798 | Missense Mutation | TCA,TTA | S,L 237 | XP_016875529.1 | |
XM_017020041.1 | 1798 | Missense Mutation | TCA,TTA | S,L 173 | XP_016875530.1 | |
XM_017020042.1 | 1798 | Missense Mutation | TCA,TTA | S,L 173 | XP_016875531.1 | |
XM_017020043.1 | 1798 | Missense Mutation | TCA,TTA | S,L 173 | XP_016875532.1 | |
XM_017020044.1 | 1798 | Missense Mutation | TCA,TTA | S,L 173 | XP_016875533.1 | |
XM_017020045.1 | 1798 | Missense Mutation | TCA,TTA | S,L 173 | XP_016875534.1 | |
XM_017020046.1 | 1798 | Missense Mutation | TCA,TTA | S,L 173 | XP_016875535.1 | |
XM_017020047.1 | 1798 | Missense Mutation | TCA,TTA | S,L 173 | XP_016875536.1 |