Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GACCAAATGGTCTAATCGTCTTCTT[C/T]GTCTTCCTCATCGCTGTCCTTCATG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 604667 | ||||||||||||||||||||
Literature Links: |
CADPS 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 |
CADPS - calcium dependent secretion activator | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003716.3 | 4589 | Missense Mutation | AAA,GAA | K,E 1350 | NP_003707.2 | |
NM_183393.2 | 4589 | Missense Mutation | AAA,GAA | K,E 1271 | NP_899630.1 | |
NM_183394.2 | 4589 | Missense Mutation | AAA,GAA | K,E 1311 | NP_899631.1 | |
XM_006713378.2 | 4589 | Missense Mutation | AAA,GAA | K,E 1292 | XP_006713441.2 | |
XM_011534177.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1428 | XP_011532479.1 | |
XM_011534178.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1422 | XP_011532480.1 | |
XM_011534180.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1412 | XP_011532482.1 | |
XM_011534182.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1405 | XP_011532484.1 | |
XM_011534183.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1399 | XP_011532485.1 | |
XM_011534189.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1373 | XP_011532491.1 | |
XM_011534191.2 | 4589 | Missense Mutation | AAA,GAA | K,E 1360 | XP_011532493.1 | |
XM_011534192.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1359 | XP_011532494.1 | |
XM_011534193.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1355 | XP_011532495.1 | |
XM_011534194.2 | 4589 | Missense Mutation | AAA,GAA | K,E 1354 | XP_011532496.1 | |
XM_011534195.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1350 | XP_011532497.1 | |
XM_011534196.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1349 | XP_011532498.1 | |
XM_011534197.2 | 4589 | Missense Mutation | AAA,GAA | K,E 1341 | XP_011532499.1 | |
XM_011534198.2 | 4589 | Missense Mutation | AAA,GAA | K,E 1294 | XP_011532500.1 | |
XM_011534199.2 | 4589 | Missense Mutation | AAA,GAA | K,E 1293 | XP_011532501.1 | |
XM_011534200.2 | 4589 | Missense Mutation | AAA,GAA | K,E 1288 | XP_011532502.1 | |
XM_011534202.2 | 4589 | Intron | XP_011532504.1 | |||
XM_011534203.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1344 | XP_011532505.1 | |
XM_017007358.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1430 | XP_016862847.1 | |
XM_017007359.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1426 | XP_016862848.1 | |
XM_017007360.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1423 | XP_016862849.1 | |
XM_017007361.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1407 | XP_016862850.1 | |
XM_017007362.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1403 | XP_016862851.1 | |
XM_017007363.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1400 | XP_016862852.1 | |
XM_017007364.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1374 | XP_016862853.1 | |
XM_017007365.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1370 | XP_016862854.1 | |
XM_017007366.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1368 | XP_016862855.1 | |
XM_017007367.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1366 | XP_016862856.1 | |
XM_017007368.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1365 | XP_016862857.1 | |
XM_017007369.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1359 | XP_016862858.1 | |
XM_017007370.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1354 | XP_016862859.1 | |
XM_017007371.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1351 | XP_016862860.1 | |
XM_017007372.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1351 | XP_016862861.1 | |
XM_017007373.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1350 | XP_016862862.1 | |
XM_017007374.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1347 | XP_016862863.1 | |
XM_017007375.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1346 | XP_016862864.1 | |
XM_017007376.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1345 | XP_016862865.1 | |
XM_017007377.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1343 | XP_016862866.1 | |
XM_017007378.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1342 | XP_016862867.1 | |
XM_017007379.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1341 | XP_016862868.1 | |
XM_017007380.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1322 | XP_016862869.1 | |
XM_017007381.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1321 | XP_016862870.1 | |
XM_017007382.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1317 | XP_016862871.1 | |
XM_017007383.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1315 | XP_016862872.1 | |
XM_017007384.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1305 | XP_016862873.1 | |
XM_017007385.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1301 | XP_016862874.1 | |
XM_017007386.1 | 4589 | Missense Mutation | AAA,GAA | K,E 1298 | XP_016862875.1 |