Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 149166869-149167102 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 XM_017007323.1

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 XM_017007323.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4391490 c.2620G>A p.A874T Chr.3: 149167064-149167064 on Build GRCh38
3588567 c.2624C>T p.S875F Chr.3: 149167068-149167068 on Build GRCh38
5880568 c.2626A>T p.I876F Chr.3: 149167070-149167070 on Build GRCh38
1285427 c.2640G>T p.L880F Chr.3: 149167084-149167084 on Build GRCh38
3588568 c.2635T>C p.F879L Chr.3: 149167079-149167079 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1041130008 Chr.3: 149166981-149166981 on Build GRCh38
rs778132511 Chr.3: 149166986-149166986 on Build GRCh38
rs572152532 Chr.3: 149166985-149166985 on Build GRCh38
rs1006912204 Chr.3: 149166959-149166959 on Build GRCh38
rs878982390 Chr.3: 149166923-149166923 on Build GRCh38
rs779656738 Chr.3: 149167011-149167011 on Build GRCh38
rs879249563 Chr.3: 149166920-149166920 on Build GRCh38
rs774698810 Chr.3: 149166916-149166916 on Build GRCh38
rs200121725 Chr.3: 149167069-149167069 on Build GRCh38
rs758103258 Chr.3: 149167007-149167007 on Build GRCh38
rs769485246 Chr.3: 149167054-149167054 on Build GRCh38
rs200846027 Chr.3: 149167027-149167027 on Build GRCh38
rs761030871 Chr.3: 149166906-149166906 on Build GRCh38
rs553394371 Chr.3: 149166901-149166901 on Build GRCh38
rs746559782 Chr.3: 149167024-149167024 on Build GRCh38
rs147593958 Chr.3: 149167078-149167078 on Build GRCh38
rs754148097 Chr.3: 149166995-149166995 on Build GRCh38
rs888984373 Chr.3: 149166952-149166952 on Build GRCh38
rs565634870 Chr.3: 149167037-149167037 on Build GRCh38
rs1033560262 Chr.3: 149166910-149166910 on Build GRCh38
rs1050678554 Chr.3: 149166926-149166926 on Build GRCh38
rs145093021 Chr.3: 149167077-149167077 on Build GRCh38
rs564057556 Chr.3: 149167042-149167042 on Build GRCh38

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