Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 149167800-149168055 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
4484322 c.2798C>T p.T933I Chr.3: 149167894-149167894 on Build GRCh38
4393799 c.2872C>A p.L958M Chr.3: 149167968-149167968 on Build GRCh38
82184 c.2856G>A p.E952E Chr.3: 149167952-149167952 on Build GRCh38
3729824 c.2887+10delT p.? Chr.3: 149167993-149167993 on Build GRCh38
5716363 c.2879C>T p.S960L Chr.3: 149167975-149167975 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs768227421 Chr.3: 149168000-149168001 on Build GRCh38
rs149669748 Chr.3: 149167955-149167955 on Build GRCh38
rs974198293 Chr.3: 149167884-149167884 on Build GRCh38
rs11537808 Chr.3: 149167908-149167908 on Build GRCh38
rs763208429 Chr.3: 149167875-149167875 on Build GRCh38
rs770339229 Chr.3: 149168007-149168007 on Build GRCh38
rs773681450 Chr.3: 149168019-149168019 on Build GRCh38
rs762236398 Chr.3: 149167853-149167853 on Build GRCh38
rs760255783 Chr.3: 149167904-149167904 on Build GRCh38
rs397710976 Chr.3: 149168002-149168003 on Build GRCh38
rs368605717 Chr.3: 149167935-149167935 on Build GRCh38
rs777133486 Chr.3: 149167851-149167851 on Build GRCh38
rs753830955 Chr.3: 149167923-149167923 on Build GRCh38
rs768567312 Chr.3: 149167849-149167849 on Build GRCh38
rs752254530 Chr.3: 149167901-149167901 on Build GRCh38
rs993631124 Chr.3: 149167864-149167864 on Build GRCh38
rs898020394 Chr.3: 149167842-149167842 on Build GRCh38
rs763642390 Chr.3: 149167918-149167918 on Build GRCh38
rs750271056 Chr.3: 149167950-149167950 on Build GRCh38
rs780343349 Chr.3: 149167974-149167974 on Build GRCh38
rs917888974 Chr.3: 149167967-149167967 on Build GRCh38
rs778588670 Chr.3: 149167942-149167942 on Build GRCh38
rs765724922 Chr.3: 149167861-149167861 on Build GRCh38
rs767242000 Chr.3: 149167896-149167896 on Build GRCh38
rs1027421371 Chr.3: 149167972-149167972 on Build GRCh38
rs768723740 Chr.3: 149167985-149167985 on Build GRCh38
rs371658926 Chr.3: 149167947-149167947 on Build GRCh38
rs748217341 Chr.3: 149167996-149167996 on Build GRCh38
rs961639247 Chr.3: 149167827-149167827 on Build GRCh38
rs542575938 Chr.3: 149167944-149167944 on Build GRCh38
rs951761745 Chr.3: 149167995-149167995 on Build GRCh38
rs750099827 Chr.3: 149167942-149167944 on Build GRCh38
rs779467600 Chr.3: 149167993-149167993 on Build GRCh38
rs369619705 Chr.3: 149167933-149167933 on Build GRCh38
rs781312506 Chr.3: 149167991-149167991 on Build GRCh38
rs773628358 Chr.3: 149167865-149167865 on Build GRCh38
rs376785970 Chr.3: 149167836-149167836 on Build GRCh38
rs564039434 Chr.3: 149167992-149167993 on Build GRCh38
rs747140682 Chr.3: 149167976-149167976 on Build GRCh38

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