Product Details

SNP ID

rs147103435

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:62399420 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCAAATGGTCTAATCGTCTTCTT[C/T]GTCTTCCTCATCGCTGTCCTTCATG

Phenotype

MIM: 604667

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CADPS PubMed Links

Gene Details

Gene

CADPS

Gene Name

calcium dependent secretion activator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003716.3	4589	Missense Mutation	AAA,GAA	K1350E	NP_003707.2
NM_183393.2	4589	Missense Mutation	AAA,GAA	K1271E	NP_899630.1
NM_183394.2	4589	Missense Mutation	AAA,GAA	K1311E	NP_899631.1
XM_006713378.2	4589	Missense Mutation	AAA,GAA	K1292E	XP_006713441.2
XM_011534177.1	4589	Missense Mutation	AAA,GAA	K1428E	XP_011532479.1
XM_011534178.1	4589	Missense Mutation	AAA,GAA	K1422E	XP_011532480.1
XM_011534180.1	4589	Missense Mutation	AAA,GAA	K1412E	XP_011532482.1
XM_011534182.1	4589	Missense Mutation	AAA,GAA	K1405E	XP_011532484.1
XM_011534183.1	4589	Missense Mutation	AAA,GAA	K1399E	XP_011532485.1
XM_011534189.1	4589	Missense Mutation	AAA,GAA	K1373E	XP_011532491.1
XM_011534191.2	4589	Missense Mutation	AAA,GAA	K1360E	XP_011532493.1
XM_011534192.1	4589	Missense Mutation	AAA,GAA	K1359E	XP_011532494.1
XM_011534193.1	4589	Missense Mutation	AAA,GAA	K1355E	XP_011532495.1
XM_011534194.2	4589	Missense Mutation	AAA,GAA	K1354E	XP_011532496.1
XM_011534195.1	4589	Missense Mutation	AAA,GAA	K1350E	XP_011532497.1
XM_011534196.1	4589	Missense Mutation	AAA,GAA	K1349E	XP_011532498.1
XM_011534197.2	4589	Missense Mutation	AAA,GAA	K1341E	XP_011532499.1
XM_011534198.2	4589	Missense Mutation	AAA,GAA	K1294E	XP_011532500.1
XM_011534199.2	4589	Missense Mutation	AAA,GAA	K1293E	XP_011532501.1
XM_011534200.2	4589	Missense Mutation	AAA,GAA	K1288E	XP_011532502.1
XM_011534202.2	4589	Intron			XP_011532504.1
XM_011534203.1	4589	Missense Mutation	AAA,GAA	K1344E	XP_011532505.1
XM_017007358.1	4589	Missense Mutation	AAA,GAA	K1430E	XP_016862847.1
XM_017007359.1	4589	Missense Mutation	AAA,GAA	K1426E	XP_016862848.1
XM_017007360.1	4589	Missense Mutation	AAA,GAA	K1423E	XP_016862849.1
XM_017007361.1	4589	Missense Mutation	AAA,GAA	K1407E	XP_016862850.1
XM_017007362.1	4589	Missense Mutation	AAA,GAA	K1403E	XP_016862851.1
XM_017007363.1	4589	Missense Mutation	AAA,GAA	K1400E	XP_016862852.1
XM_017007364.1	4589	Missense Mutation	AAA,GAA	K1374E	XP_016862853.1
XM_017007365.1	4589	Missense Mutation	AAA,GAA	K1370E	XP_016862854.1
XM_017007366.1	4589	Missense Mutation	AAA,GAA	K1368E	XP_016862855.1
XM_017007367.1	4589	Missense Mutation	AAA,GAA	K1366E	XP_016862856.1
XM_017007368.1	4589	Missense Mutation	AAA,GAA	K1365E	XP_016862857.1
XM_017007369.1	4589	Missense Mutation	AAA,GAA	K1359E	XP_016862858.1
XM_017007370.1	4589	Missense Mutation	AAA,GAA	K1354E	XP_016862859.1
XM_017007371.1	4589	Missense Mutation	AAA,GAA	K1351E	XP_016862860.1
XM_017007372.1	4589	Missense Mutation	AAA,GAA	K1351E	XP_016862861.1
XM_017007373.1	4589	Missense Mutation	AAA,GAA	K1350E	XP_016862862.1
XM_017007374.1	4589	Missense Mutation	AAA,GAA	K1347E	XP_016862863.1
XM_017007375.1	4589	Missense Mutation	AAA,GAA	K1346E	XP_016862864.1
XM_017007376.1	4589	Missense Mutation	AAA,GAA	K1345E	XP_016862865.1
XM_017007377.1	4589	Missense Mutation	AAA,GAA	K1343E	XP_016862866.1
XM_017007378.1	4589	Missense Mutation	AAA,GAA	K1342E	XP_016862867.1
XM_017007379.1	4589	Missense Mutation	AAA,GAA	K1341E	XP_016862868.1
XM_017007380.1	4589	Missense Mutation	AAA,GAA	K1322E	XP_016862869.1
XM_017007381.1	4589	Missense Mutation	AAA,GAA	K1321E	XP_016862870.1
XM_017007382.1	4589	Missense Mutation	AAA,GAA	K1317E	XP_016862871.1
XM_017007383.1	4589	Missense Mutation	AAA,GAA	K1315E	XP_016862872.1
XM_017007384.1	4589	Missense Mutation	AAA,GAA	K1305E	XP_016862873.1
XM_017007385.1	4589	Missense Mutation	AAA,GAA	K1301E	XP_016862874.1
XM_017007386.1	4589	Missense Mutation	AAA,GAA	K1298E	XP_016862875.1

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