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Search Thermo Fisher Scientific
TAATAATCTTTTCTTTTACCTTTAC[C/T]ATCCTAATTAGTGTTTTCAACTGAT
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
|
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 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003716.3 | 4417 | Missense Mutation | ATA,ATG | I,M 1292 | NP_003707.2 | |
NM_183393.2 | 4417 | Missense Mutation | ATA,ATG | I,M 1213 | NP_899630.1 | |
NM_183394.2 | 4417 | Missense Mutation | ATA,ATG | I,M 1253 | NP_899631.1 | |
XM_006713378.2 | 4417 | Missense Mutation | ATA,ATG | I,M 1234 | XP_006713441.2 | |
XM_011534177.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1370 | XP_011532479.1 | |
XM_011534178.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1364 | XP_011532480.1 | |
XM_011534180.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1354 | XP_011532482.1 | |
XM_011534182.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1347 | XP_011532484.1 | |
XM_011534183.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1341 | XP_011532485.1 | |
XM_011534189.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1315 | XP_011532491.1 | |
XM_011534191.2 | 4417 | Missense Mutation | ATA,ATG | I,M 1302 | XP_011532493.1 | |
XM_011534192.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1301 | XP_011532494.1 | |
XM_011534193.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1297 | XP_011532495.1 | |
XM_011534194.2 | 4417 | Missense Mutation | ATA,ATG | I,M 1296 | XP_011532496.1 | |
XM_011534195.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1292 | XP_011532497.1 | |
XM_011534196.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1291 | XP_011532498.1 | |
XM_011534197.2 | 4417 | Missense Mutation | ATA,ATG | I,M 1283 | XP_011532499.1 | |
XM_011534198.2 | 4417 | Missense Mutation | ATA,ATG | I,M 1236 | XP_011532500.1 | |
XM_011534199.2 | 4417 | Missense Mutation | ATA,ATG | I,M 1235 | XP_011532501.1 | |
XM_011534200.2 | 4417 | Missense Mutation | ATA,ATG | I,M 1230 | XP_011532502.1 | |
XM_011534202.2 | 4417 | Intron | XP_011532504.1 | |||
XM_011534203.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1286 | XP_011532505.1 | |
XM_017007358.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1372 | XP_016862847.1 | |
XM_017007359.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1368 | XP_016862848.1 | |
XM_017007360.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1365 | XP_016862849.1 | |
XM_017007361.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1349 | XP_016862850.1 | |
XM_017007362.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1345 | XP_016862851.1 | |
XM_017007363.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1342 | XP_016862852.1 | |
XM_017007364.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1316 | XP_016862853.1 | |
XM_017007365.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1312 | XP_016862854.1 | |
XM_017007366.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1310 | XP_016862855.1 | |
XM_017007367.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1308 | XP_016862856.1 | |
XM_017007368.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1307 | XP_016862857.1 | |
XM_017007369.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1301 | XP_016862858.1 | |
XM_017007370.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1296 | XP_016862859.1 | |
XM_017007371.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1293 | XP_016862860.1 | |
XM_017007372.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1293 | XP_016862861.1 | |
XM_017007373.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1292 | XP_016862862.1 | |
XM_017007374.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1289 | XP_016862863.1 | |
XM_017007375.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1288 | XP_016862864.1 | |
XM_017007376.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1287 | XP_016862865.1 | |
XM_017007377.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1285 | XP_016862866.1 | |
XM_017007378.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1284 | XP_016862867.1 | |
XM_017007379.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1283 | XP_016862868.1 | |
XM_017007380.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1264 | XP_016862869.1 | |
XM_017007381.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1263 | XP_016862870.1 | |
XM_017007382.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1259 | XP_016862871.1 | |
XM_017007383.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1257 | XP_016862872.1 | |
XM_017007384.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1247 | XP_016862873.1 | |
XM_017007385.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1243 | XP_016862874.1 | |
XM_017007386.1 | 4417 | Missense Mutation | ATA,ATG | I,M 1240 | XP_016862875.1 |