Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 149172008-149172269 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
CP
Entrez Gene ID
1356
Gene Name
ceruloplasmin (ferroxidase)
Gene Aliases
CP-2
UniGene
Hs.558314
Gene Chromosome Location
Chr.3: 149162410-149222050 on Build GRCh38
Transcripts
NR_046371.1 XM_006713499.2 XM_011512435.1 NM_001308258.1 NM_032383.4

Gene Symbol
HPS3
Entrez Gene ID
84343
Gene Name
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Gene Aliases
BLOC2S1, SUTAL
UniGene
Hs.558314
Gene Chromosome Location
Chr.3: 149129584-149173196 on Build GRCh38
Transcripts
NR_046371.1 XM_006713499.2 XM_011512435.1 NM_001308258.1 NM_032383.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4485525 c.2943C>T p.L981L Chr.3: 149172150-149172150 on Build GRCh38
1419835 c.2995C>T p.R999* Chr.3: 149172202-149172202 on Build GRCh38
1636978 c.2895G>C p.L965F Chr.3: 149172102-149172102 on Build GRCh38
1209946 c.2967T>G p.F989L Chr.3: 149172174-149172174 on Build GRCh38
257128 c.2931C>A p.F977L Chr.3: 149172138-149172138 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs200136665 Chr.3: 149172106-149172106 on Build GRCh38
rs1020321309 Chr.3: 149172040-149172041 on Build GRCh38
rs763835209 Chr.3: 149172080-149172080 on Build GRCh38
rs145482910 Chr.3: 149172159-149172159 on Build GRCh38
rs527240120 Chr.3: 149172203-149172203 on Build GRCh38
rs781305454 Chr.3: 149172172-149172172 on Build GRCh38
rs982121354 Chr.3: 149172045-149172045 on Build GRCh38
rs35096694 Chr.3: 149172040-149172040 on Build GRCh38
rs753447120 Chr.3: 149172082-149172082 on Build GRCh38
rs748044675 Chr.3: 149172195-149172195 on Build GRCh38
rs940184044 Chr.3: 149172052-149172052 on Build GRCh38
rs1042706528 Chr.3: 149172182-149172182 on Build GRCh38
rs751361480 Chr.3: 149172124-149172124 on Build GRCh38
rs764779503 Chr.3: 149172231-149172231 on Build GRCh38
rs773202573 Chr.3: 149172232-149172232 on Build GRCh38
rs776380448 Chr.3: 149172224-149172224 on Build GRCh38
rs765294626 Chr.3: 149172102-149172102 on Build GRCh38
rs138521782 Chr.3: 149172053-149172053 on Build GRCh38
rs778369550 Chr.3: 149172165-149172165 on Build GRCh38
rs118124441 Chr.3: 149172164-149172164 on Build GRCh38
rs922342164 Chr.3: 149172169-149172169 on Build GRCh38
rs774646241 Chr.3: 149172202-149172202 on Build GRCh38
rs758223311 Chr.3: 149172117-149172117 on Build GRCh38
rs932431947 Chr.3: 149172086-149172086 on Build GRCh38
rs771333512 Chr.3: 149172196-149172196 on Build GRCh38
rs781373708 Chr.3: 149172143-149172143 on Build GRCh38
rs775224259 Chr.3: 149172071-149172071 on Build GRCh38
rs772232725 Chr.3: 149172058-149172058 on Build GRCh38
rs367699256 Chr.3: 149172190-149172190 on Build GRCh38
rs761374962 Chr.3: 149172091-149172091 on Build GRCh38
rs760179059 Chr.3: 149172076-149172076 on Build GRCh38
rs755248178 Chr.3: 149172142-149172142 on Build GRCh38
rs908683360 Chr.3: 149172047-149172047 on Build GRCh38
rs762860433 Chr.3: 149172234-149172234 on Build GRCh38

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