Product Details

SNP ID

rs148752175

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:62399518 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCACAGTGAGACGGTTCCGGATC[A/G]TTTCATAGGTCTTGCTGTTTAAGGT

Phenotype

MIM: 604667

Polymorphism

A/G, 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	4491	Missense Mutation	ACG,ATG	T1317M	NP_003707.2
NM_183393.2	4491	Missense Mutation	ACG,ATG	T1238M	NP_899630.1
NM_183394.2	4491	Missense Mutation	ACG,ATG	T1278M	NP_899631.1
XM_006713378.2	4491	Missense Mutation	ACG,ATG	T1259M	XP_006713441.2
XM_011534177.1	4491	Missense Mutation	ACG,ATG	T1395M	XP_011532479.1
XM_011534178.1	4491	Missense Mutation	ACG,ATG	T1389M	XP_011532480.1
XM_011534180.1	4491	Missense Mutation	ACG,ATG	T1379M	XP_011532482.1
XM_011534182.1	4491	Missense Mutation	ACG,ATG	T1372M	XP_011532484.1
XM_011534183.1	4491	Missense Mutation	ACG,ATG	T1366M	XP_011532485.1
XM_011534189.1	4491	Missense Mutation	ACG,ATG	T1340M	XP_011532491.1
XM_011534191.2	4491	Missense Mutation	ACG,ATG	T1327M	XP_011532493.1
XM_011534192.1	4491	Missense Mutation	ACG,ATG	T1326M	XP_011532494.1
XM_011534193.1	4491	Missense Mutation	ACG,ATG	T1322M	XP_011532495.1
XM_011534194.2	4491	Missense Mutation	ACG,ATG	T1321M	XP_011532496.1
XM_011534195.1	4491	Missense Mutation	ACG,ATG	T1317M	XP_011532497.1
XM_011534196.1	4491	Missense Mutation	ACG,ATG	T1316M	XP_011532498.1
XM_011534197.2	4491	Missense Mutation	ACG,ATG	T1308M	XP_011532499.1
XM_011534198.2	4491	Missense Mutation	ACG,ATG	T1261M	XP_011532500.1
XM_011534199.2	4491	Missense Mutation	ACG,ATG	T1260M	XP_011532501.1
XM_011534200.2	4491	Missense Mutation	ACG,ATG	T1255M	XP_011532502.1
XM_011534202.2	4491	Intron			XP_011532504.1
XM_011534203.1	4491	Missense Mutation	ACG,ATG	T1311M	XP_011532505.1
XM_017007358.1	4491	Missense Mutation	ACG,ATG	T1397M	XP_016862847.1
XM_017007359.1	4491	Missense Mutation	ACG,ATG	T1393M	XP_016862848.1
XM_017007360.1	4491	Missense Mutation	ACG,ATG	T1390M	XP_016862849.1
XM_017007361.1	4491	Missense Mutation	ACG,ATG	T1374M	XP_016862850.1
XM_017007362.1	4491	Missense Mutation	ACG,ATG	T1370M	XP_016862851.1
XM_017007363.1	4491	Missense Mutation	ACG,ATG	T1367M	XP_016862852.1
XM_017007364.1	4491	Missense Mutation	ACG,ATG	T1341M	XP_016862853.1
XM_017007365.1	4491	Missense Mutation	ACG,ATG	T1337M	XP_016862854.1
XM_017007366.1	4491	Missense Mutation	ACG,ATG	T1335M	XP_016862855.1
XM_017007367.1	4491	Missense Mutation	ACG,ATG	T1333M	XP_016862856.1
XM_017007368.1	4491	Missense Mutation	ACG,ATG	T1332M	XP_016862857.1
XM_017007369.1	4491	Missense Mutation	ACG,ATG	T1326M	XP_016862858.1
XM_017007370.1	4491	Missense Mutation	ACG,ATG	T1321M	XP_016862859.1
XM_017007371.1	4491	Missense Mutation	ACG,ATG	T1318M	XP_016862860.1
XM_017007372.1	4491	Missense Mutation	ACG,ATG	T1318M	XP_016862861.1
XM_017007373.1	4491	Missense Mutation	ACG,ATG	T1317M	XP_016862862.1
XM_017007374.1	4491	Missense Mutation	ACG,ATG	T1314M	XP_016862863.1
XM_017007375.1	4491	Missense Mutation	ACG,ATG	T1313M	XP_016862864.1
XM_017007376.1	4491	Missense Mutation	ACG,ATG	T1312M	XP_016862865.1
XM_017007377.1	4491	Missense Mutation	ACG,ATG	T1310M	XP_016862866.1
XM_017007378.1	4491	Missense Mutation	ACG,ATG	T1309M	XP_016862867.1
XM_017007379.1	4491	Missense Mutation	ACG,ATG	T1308M	XP_016862868.1
XM_017007380.1	4491	Missense Mutation	ACG,ATG	T1289M	XP_016862869.1
XM_017007381.1	4491	Missense Mutation	ACG,ATG	T1288M	XP_016862870.1
XM_017007382.1	4491	Missense Mutation	ACG,ATG	T1284M	XP_016862871.1
XM_017007383.1	4491	Missense Mutation	ACG,ATG	T1282M	XP_016862872.1
XM_017007384.1	4491	Missense Mutation	ACG,ATG	T1272M	XP_016862873.1
XM_017007385.1	4491	Missense Mutation	ACG,ATG	T1268M	XP_016862874.1
XM_017007386.1	4491	Missense Mutation	ACG,ATG	T1265M	XP_016862875.1

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